ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	rsNumber
6-90642127-C-T	ENST00000257749	p.Ter842Ter	Stop Retained Variant	rs1402088094
6-90642127-C-T	ENST00000343122	p.Ter842Ter	Stop Retained Variant	rs1402088094
6-90642127-C-T	ENST00000537989	p.Ter842Ter	Stop Retained Variant	rs1402088094
6-90642131-G-C	ENST00000257749	p.Thr841Ser	Missense Variant	rs751211841
6-90642131-G-C	ENST00000343122	p.Thr841Ser	Missense Variant	rs751211841
6-90642131-G-C	ENST00000537989	p.Thr841Ser	Missense Variant	rs751211841
6-90642135-A-G	ENST00000257749	p.Tyr840His	Missense Variant	rs1325955008
6-90642135-A-G	ENST00000343122	p.Tyr840His	Missense Variant	rs1325955008
6-90642135-A-G	ENST00000537989	p.Tyr840His	Missense Variant	rs1325955008
6-90642138-C-T	ENST00000257749	p.Asp839Asn	Missense Variant	rs1225291474
6-90642138-C-T	ENST00000343122	p.Asp839Asn	Missense Variant	rs1225291474
6-90642138-C-T	ENST00000537989	p.Asp839Asn	Missense Variant	rs1225291474
6-90642144-T-G	ENST00000257749	p.Arg837Arg	Synonymous Variant	rs759055183
6-90642144-T-G	ENST00000343122	p.Arg837Arg	Synonymous Variant	rs759055183
6-90642144-T-G	ENST00000537989	p.Arg837Arg	Synonymous Variant	rs759055183
6-90642147-G-A	ENST00000257749	p.Pro836Ser	Missense Variant	rs1361486616
6-90642147-G-A	ENST00000343122	p.Pro836Ser	Missense Variant	rs1361486616
6-90642147-G-A	ENST00000537989	p.Pro836Ser	Missense Variant	rs1361486616
6-90642154-G-A	ENST00000257749	p.Asp833Asp	Synonymous Variant	rs536262907
6-90642154-G-A	ENST00000343122	p.Asp833Asp	Synonymous Variant	rs536262907

Showing 1 to 20 of 1,926 entries

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Post-translational Modifications (PTMs)

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
BACH2	Q9BYV9	Phosphorylation	159	S159-p	PHEDCENsAGEEEDE	92.54	15435917
BACH2	Q9BYV9	Sumoylation	202	K202-sm	AAIPVAEkEEALLPE	92.54	2798314
BACH2	Q9BYV9	Ubiquitination	267	K267-ub	DNSSNSLkPGLARGQ	92.54	964500620
BACH2	Q9BYV9	Sumoylation	276	K276-sm	GLARGQIkSEPPSEE	92.54	2798317
BACH2	Q9BYV9	Phosphorylation	294	S294-p	ESITLCLsGDEPDAK	92.54	34505392
BACH2	Q9BYV9	Phosphorylation	315	S315-p	EMDRKQPsPAPtPTA	92.54	6265303
BACH2	Q9BYV9	Phosphorylation	319	T319-p	KQPsPAPtPTAPAGA	92.54	6265304
BACH2	Q9BYV9	Phosphorylation	334	S334-p	ACLERSRsVAsPSCL	92.54	4712505
BACH2	Q9BYV9	Phosphorylation	337	S337-p	ERSRsVAsPSCLRsL	92.54	4712510
BACH2	Q9BYV9	Phosphorylation	343	S343-p	AsPSCLRsLFSITKs	92.54	50774004
BACH2	Q9BYV9	Phosphorylation	350	S350-p	sLFSITKsVELSGLP	92.54	40267974
BACH2	Q9BYV9	Ubiquitination	382	K382-ub	GITQGDLkTDYTPFT	92.54	964500622
BACH2	Q9BYV9	Ubiquitination	400	K400-ub	GQPHVGQkEVSNFTM	92.54	964500624
BACH2	Q9BYV9	Phosphorylation	409	S409-p	VSNFTMGsPLRGPGL	92.54	4712515
BACH2	Q9BYV9	Sumoylation	421	K421-sm	PGLEALCkQEGELDR	92.54	2798316
BACH2	Q9BYV9	Phosphorylation	510	S510-p	PIKVCPRsPPLETRT	92.54	15407975
BACH2	Q9BYV9	Phosphorylation	521	S521-p	ETRTRTSsSCSsYsY	92.54	470117
BACH2	Q9BYV9	Phosphorylation	525	S525-p	RTSsSCSsYsYAEDG	92.54	34605729
BACH2	Q9BYV9	Phosphorylation	527	S527-p	SsSCSsYsYAEDGSG	92.54	34605731
BACH2	Q9BYV9	Phosphorylation	546	S546-p	SLPLCEFsSSPCsQG	92.54	34605733

Showing 1 to 20 of 23 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
BACH2	ENST00000257749	TCGA-56-8625-01	lung	carcinoma	23207004	c.2482G>A	p.D828N	Substitution - Missense	PATHOGENIC	.98776	Confirmed somatic variant	PMID: N/A	NS	828
BACH2	ENST00000257749	TCGA-56-8625-01	lung	carcinoma	23207015	c.2416G>A	p.E806K	Substitution - Missense	PATHOGENIC	.85853	Confirmed somatic variant	PMID: N/A	NS	806
BACH2	ENST00000257749	P129	large_intestine	carcinoma	23200572	c.2295C>T	p.N765=	Substitution - coding silent	NEUTRAL	.08698	Confirmed somatic variant	PMID: 24951259	primary	765
BACH2	ENST00000257749	P129	large_intestine	carcinoma	23200583	c.1506A>G	p.V502=	Substitution - coding silent	NEUTRAL	.25185	Confirmed somatic variant	PMID: 24951259	primary	502
BACH2	ENST00000257749	EOPC-064_tumor_01	prostate	carcinoma	23222237	c.-12-24466G>A	p.?	Unknown	NEUTRAL	.00074	Confirmed somatic variant	PMID: N/A	primary	0
BACH2	ENST00000257749	8057490	pancreas	carcinoma	23222211	c.244-7926A>C	p.?	Unknown	NEUTRAL	.00922	Confirmed somatic variant	PMID: N/A	NS	0
BACH2	ENST00000257749	8057490	pancreas	carcinoma	23222218	c.-13+20353T>C	p.?	Unknown	NEUTRAL	.00573	Confirmed somatic variant	PMID: N/A	NS	0
BACH2	ENST00000257749	PCSI_0468_Pa_P_526	pancreas	carcinoma	23209386	c.1836+552G>A	p.?	Unknown	NEUTRAL	.00976	Confirmed somatic variant	PMID: N/A	primary	0
BACH2	ENST00000257749	PCSI_0468_Pa_P_526	pancreas	carcinoma	23201071	c.-162+25097A>T	p.?	Unknown	NEUTRAL	.0009	Confirmed somatic variant	PMID: N/A	primary	0
BACH2	ENST00000257749	RK234_C01	liver	carcinoma	23205572	c.-13+20545C>T	p.?	Unknown	NEUTRAL	.01348	Confirmed somatic variant	PMID: N/A	primary	0
BACH2	ENST00000257749	CPCG0237-F1	prostate	carcinoma	23203300	c.-12-22272dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
BACH2	ENST00000257749	HCA7	large_intestine	carcinoma	23200178	c.2331del	p.G778Dfs*19	Deletion - Frameshift			Reported in another cancer sample as somatic	PMID: 24755471	NS	19
BACH2	ENST00000257749	8066067	pancreas	carcinoma	23209685	c.-275+577T>A	p.?	Unknown	NEUTRAL	.03502	Confirmed somatic variant	PMID: N/A	NS	0
BACH2	ENST00000257749	PCSI_0468_Pa_P_526	pancreas	carcinoma	23205047	c.-445-6200G>A	p.?	Unknown	NEUTRAL	.00019	Confirmed somatic variant	PMID: N/A	primary	0
BACH2	ENST00000257749	LP6008280-DNA_A02	oesophagus	carcinoma	23224705	c.-161-29553A>T	p.?	Unknown	NEUTRAL	.16331	Confirmed somatic variant	PMID: N/A	primary	0
BACH2	ENST00000257749	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	23207337	c.-446+761C>G	p.?	Unknown	NEUTRAL	.06506	Confirmed somatic variant	PMID: N/A	primary	0
BACH2	ENST00000257749	PD13760a	breast	carcinoma	23207758	c.244-24005A>T	p.?	Unknown	NEUTRAL	.38941	Confirmed somatic variant	PMID: N/A	NS	0
BACH2	ENST00000257749	RK054_C01	liver	carcinoma	23200273	c.-12-11219A>G	p.?	Unknown	NEUTRAL	.16173	Variant of unknown origin	PMID: N/A	primary	0
BACH2	ENST00000257749	SJHGG028_D	central_nervous_system	glioma	23222051	c.-13+1753G>T	p.?	Unknown	NEUTRAL	.07096	Confirmed somatic variant	PMID: 24705251	NS	0
BACH2	ENST00000257749	IC138	ovary	carcinoma	23204815	c.586G>A	p.A196T	Substitution - Missense	NEUTRAL	.19719	Confirmed somatic variant	PMID: 26257827	primary	196

Showing 1 to 20 of 4,358 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00651	BTB	BTB/POZ domain	27-133	CL0033	POZ	Homo sapiens
PF03131	bZIP_Maf	bZIP Maf transcription factor	617-709	CL0018	bZIP	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Celiac Disease	Digestive System Diseases ; Nutritional and Metabolic Diseases ;	0.596	0.586
Crohn Disease	Digestive System Diseases ;	0.596	0.586
Diabetes Mellitus, Insulin-Dependent	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.596	0.586
Leukemia, Myelocytic, Acute	Neoplasms ;	0.596	0.586
Acute Myeloid Leukemia, M1	Neoplasms ;	0.596	0.586
Vitiligo	Skin and Connective Tissue Diseases ;	0.596	0.586
Crohn's disease of large bowel	Digestive System Diseases ;	0.596	0.586
Diabetes, Autoimmune	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.596	0.586
Crohn's disease of the ileum	Digestive System Diseases ;	0.596	0.586
Brittle diabetes	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.596	0.586
Regional enteritis	Digestive System Diseases ;	0.596	0.586
IIeocolitis	Digestive System Diseases ;	0.596	0.586
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.596	0.586
Diabetes Mellitus, Ketosis-Prone	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.596	0.586
NO RESULT FOUND

Description:	BTB domain and CNC homolog 2 [Source:NCBI gene;Acc:702740]
Synonyms:
Other ID(s):	ENSMMUG00000009736
Protein Accession Numbers:	XP_014992421, XP_014992418, XP_014992420, XP_014992417, XP_014992422, XP_014992419, XP_014992416
Statistics:	ClinVar(81) gnomAD(1926) COSMIC(4358) PTM(23)

Classification of Clinicial Significance of ClinVar Data