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

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
5-150481012-G-A	ENST00000354546	p.Asp673Asp	Synonymous Variant	27	31348	0.000861	rs143367664
5-150481016-T-C	ENST00000354546	p.Glu672Gly	Missense Variant	0	0	0	rs1406140851
5-150481020-C-A	ENST00000354546	p.Gly671Cys	Missense Variant	1	31356	0.000032	rs1400323622
5-150481020-C-T	ENST00000354546	p.Gly671Ser	Missense Variant	0	0	0	rs1400323622
5-150481022-C-T	ENST00000354546	p.Gly670Asp	Missense Variant	9	31354	0.000287	rs200735957
5-150481029-G-A	ENST00000354546	p.Leu668Phe	Missense Variant	1	31356	0.000032	rs539676124
5-150481031-G-A	ENST00000354546	p.Ala667Val	Missense Variant	0	0	0	rs1443055563
5-150481033-C-G	ENST00000354546	p.Leu666Leu	Synonymous Variant	0	0	0	rs1323754264
5-150481036-C-A	ENST00000354546	p.Leu665Phe	Missense Variant	0	0	0	rs1370129897
5-150481043-T-C	ENST00000354546	p.Lys663Arg	Missense Variant	2	31330	0.000064	rs557813899
5-150481048-G-A	ENST00000354546	p.Phe661Phe	Synonymous Variant	0	0	0	rs971465059
5-150481051-G-A	ENST00000354546	p.Asp660Asp	Synonymous Variant	0	0	0	rs766069902
5-150481051-G-GTC	ENST00000354546	p.Asp660GlufsTer4	Frameshift Variant	1	31358	0.000032	rs766069902	lc_lof
5-150481053-C-T	ENST00000354546	p.Asp660Asn	Missense Variant	0	0	0	rs1348174825
5-150481054-TC-T	ENST00000354546	p.Gly659GlufsTer4	Frameshift Variant	0	0	0		lc_lof
5-150481056-C-T	ENST00000354546	p.Gly659Arg	Missense Variant	0	0	0	rs747761940
5-150481057-G-A	ENST00000354546	p.Ser658Ser	Synonymous Variant	0	0	0	rs769574021
5-150481063-G-A	ENST00000354546	p.Asp656Asp	Synonymous Variant	0	0	0	rs1337340015
5-150481067-C-A	ENST00000354546	p.Gly655Val	Missense Variant	0	0	0	rs1212182795
5-150481068-C-T	ENST00000354546	p.Gly655Ser	Missense Variant	0	0	0	rs1252963388

Showing 1 to 20 of 625 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
ANXA6	P08133	Phosphorylation	10	Y10-p	kPAQGAkyrGsIHDF	75.87	50323137
ANXA6	P08133	Ubiquitination	102	K102-ub	yCDAkEIkDAIsGIG	75.87	12301751
ANXA6	P08133	Acetylation	102	K102-ac	yCDAkEIkDAIsGIG	75.87	33347170
ANXA6	P08133	Phosphorylation	106	S106-p	kEIkDAIsGIGTDEk	75.87	18261988
ANXA6	P08133	Methylation	11	R11-m1	PAQGAkyrGsIHDFP	75.87	57732989
ANXA6	P08133	Ubiquitination	113	K113-ub	sGIGTDEkCLIEILA	75.87	15384567
ANXA6	P08133	Phosphorylation	121	S121-p	CLIEILAsRTNEQMH	75.87	31861645
ANXA6	P08133	Phosphorylation	13	S13-p	QGAkyrGsIHDFPGF	75.87	23082358
ANXA6	P08133	Ubiquitination	135	K135-ub	HQLVAAYkDAYERDL	75.87	3932099
ANXA6	P08133	Phosphorylation	151	S151-p	ADIIGDTsGHFQKML	75.87	34506475
ANXA6	P08133	Phosphorylation	185	Y185-p	QQDVQDLyEAGELKW	75.87	25282851
ANXA6	P08133	Ubiquitination	220	K220-ub	LVFDEYLkTTGkPIE	75.87	573760648
ANXA6	P08133	Ubiquitination	224	K224-ub	EYLkTTGkPIEAsIR	75.87	12353847
ANXA6	P08133	Phosphorylation	229	S229-p	TGkPIEAsIRGELsG	75.87	18006675
ANXA6	P08133	Phosphorylation	235	S235-p	AsIRGELsGDFEkLM	75.87	23082361
ANXA6	P08133	Ubiquitination	240	K240-ub	ELsGDFEkLMLAVVk	75.87	12357739
ANXA6	P08133	Ubiquitination	247	K247-ub	kLMLAVVkCIRSTPE	75.87	573760650
ANXA6	P08133	Methylation	259	R259-m1	TPEYFAErLFKAMkG	75.87	57732985
ANXA6	P08133	Acetylation	265	K265-ac	ErLFKAMkGLGtRDN	75.87	3815413
ANXA6	P08133	Phosphorylation	269	T269-p	KAMkGLGtRDNtLIR	75.87	4650005

Showing 1 to 20 of 100 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
ANXA6	ENST00000354546	286	stomach	carcinoma	31801117	c.978-77G>A	p.?	Unknown	NEUTRAL	.07827	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	286	stomach	carcinoma	31801111	c.978-76T>C	p.?	Unknown	NEUTRAL	.0683	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	TCGA-51-4080-01	lung	carcinoma	31795179	c.1139-1G>A	p.?	Unknown	PATHOGENIC	.95947	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	T_CCA_TH_12	biliary_tract	carcinoma	31795866	c.-25-31dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	PD13760a	breast	carcinoma	31797284	c.1839+716G>T	p.?	Unknown	NEUTRAL	.02657	Confirmed somatic variant	PMID: N/A	NS	0
ANXA6	ENST00000354546	PD6466b	NS	NS	31797191	c.1962+449A>G	p.?	Unknown	NEUTRAL	.00196	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	98216	stomach	carcinoma	31795408	c.842G>A	p.R281H	Substitution - Missense	PATHOGENIC	.97655	Confirmed somatic variant	PMID: 24807215	primary	281
ANXA6	ENST00000354546	W10T	thyroid	carcinoma	31800991	c.796G>T	p.G266C	Substitution - Missense	PATHOGENIC	.97097	Confirmed somatic variant	PMID: N/A	primary	266
ANXA6	ENST00000354546	8066067	pancreas	carcinoma	31796942	c.1347+757A>C	p.?	Unknown	NEUTRAL	.04004	Confirmed somatic variant	PMID: N/A	NS	0
ANXA6	ENST00000354546	TCGA-GN-A264-06	skin	malignant_melanoma	31794836	c.1717G>A	p.D573N	Substitution - Missense	PATHOGENIC	.91986	Confirmed somatic variant	PMID: N/A	NS	573
ANXA6	ENST00000354546	2014_Lung_sq_100_T	lung	carcinoma	31794990	c.795+35G>A	p.?	Unknown	NEUTRAL	.08503	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	T304	large_intestine	carcinoma	31797546	c.1815C>T	p.A605=	Substitution - coding silent	NEUTRAL	.0296	Confirmed somatic variant	PMID: 27149842	NS	605
ANXA6	ENST00000354546	2834130	skin	malignant_melanoma	31795447	c.704C>A	p.S235Y	Substitution - Missense	PATHOGENIC	.98665	Variant of unknown origin	PMID: 28296713	primary	235
ANXA6	ENST00000354546	2834130	skin	malignant_melanoma	31795474	c.148C>T	p.R50W	Substitution - Missense	PATHOGENIC	.88774	Reported in another cancer sample as somatic	PMID: 28296713	primary	50
ANXA6	ENST00000354546	8031544	pancreas	carcinoma	31801298	c.1057-784C>T	p.?	Unknown	NEUTRAL	.016	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	CPCG0005-F1	prostate	carcinoma	31799998	c.546+60G>A	p.?	Unknown	NEUTRAL	.26572	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	TNKTL24	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	31800979	c.489+97_489+98insTCATTAAAAAA	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	CPCG0509-F1	prostate	carcinoma	31795533	c.1840-137C>T	p.?	Unknown	NEUTRAL	.00221	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	PD6722a	breast	carcinoma	31799558	c.-25-924G>T	p.?	Unknown	NEUTRAL	.01302	Confirmed somatic variant	PMID: N/A	primary	0
ANXA6	ENST00000354546	95	kidney	carcinoma	31799987	c.641-1G>A	p.?	Unknown	PATHOGENIC	.98398	Confirmed somatic variant	PMID: 25401301	primary	0

Showing 1 to 20 of 338 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Organism
NO RESULT FOUND
PF00191	Annexin	Annexin	439-504	Homo sapiens
PF00191	Annexin	Annexin	367-432	Homo sapiens
PF00191	Annexin	Annexin	603-668	Homo sapiens
PF00191	Annexin	Annexin	255-320	Homo sapiens
PF00191	Annexin	Annexin	96-161	Homo sapiens
PF00191	Annexin	Annexin	179-245	Homo sapiens
PF00191	Annexin	Annexin	24-89	Homo sapiens
PF00191	Annexin	Annexin	524-593	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.569	0.724
Acute Myeloid Leukemia, M1	Neoplasms ;	0.569	0.724
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.569	0.724
NO RESULT FOUND

Description:	annexin A6 [Source:ZFIN;Acc:ZDB-GENE-030707-3]
Synonyms:
Other ID(s):	XB-GENE-989741
Protein Accession Numbers:	XP_002937305
Statistics:	ClinVar(5) gnomAD(625) COSMIC(338) PTM(100)

Classification of Clinicial Significance of ClinVar Data