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

Protein Altering Variant

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
10-76602629-C-G	ENST00000372711	p.Ala5Gly	Missense Variant	0	0	0	rs758465794
10-76602642-T-C	ENST00000372711	p.Tyr9Tyr	Synonymous Variant	0	0	0
10-76602648-G-A	ENST00000372711	p.Glu11Glu	Synonymous Variant	0	0	0	rs780144880
10-76602657-T-G	ENST00000372711	p.Leu14Leu	Synonymous Variant	0	0	0	rs1482477580
10-76602661-G-T	ENST00000372711	p.Ala16Ser	Missense Variant	0	0	0	rs747489662
10-76602671-A-G	ENST00000372711	p.Lys19Arg	Missense Variant	0	0	0	rs1258232007
10-76602673-A-G	ENST00000372711	p.Ile20Val	Missense Variant	0	0	0	rs755459198
10-76602674-T-C	ENST00000372711	p.Ile20Thr	Missense Variant	0	0	0	rs781575660
10-76602681-G-A	ENST00000372711	p.Lys22Lys	Synonymous Variant	0	0	0	rs748479485
10-76602681-G-C	ENST00000372711	p.Lys22Asn	Missense Variant	0	0	0	rs748479485
10-76602696-C-T	ENST00000372711	p.Pro27Pro	Synonymous Variant	0	0	0	rs1451572143
10-76602701-A-T	ENST00000372711	p.Glu29Val	Missense Variant	3	31406	0.000096
10-76602706-A-C	ENST00000372711	p.Arg31Arg	Synonymous Variant	0	0	0	rs1389777237
10-76602719-C-T	ENST00000372711	p.Ala35Val	Missense Variant	1	31400	0.000032	rs772997103
10-76602720-G-T	ENST00000372711	p.Ala35Ala	Synonymous Variant	0	0	0	rs748991201
10-76602724-A-G	ENST00000372711	p.Ser37Gly	Missense Variant	0	0	0	rs770545156
10-76602727-A-G	ENST00000372711	p.Thr38Ala	Missense Variant	0	0	0	rs774022852
10-76602731-C-T	ENST00000372711	p.Ser39Phe	Missense Variant	0	0	0	rs1319397357
10-76602734-A-G	ENST00000372711	p.His40Arg	Missense Variant	0	0	0	rs1367725176
10-76602735-T-C	ENST00000372711	p.His40His	Synonymous Variant	1	31380	0.000032	rs1429199412

Showing 1 to 20 of 1,318 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

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
KAT6B_ENST00000372711	ENST00000372711	TCGA-AG-A02X-01	large_intestine	carcinoma	38427022	c.1791A>C	p.E597D	Substitution - Missense	PATHOGENIC	.9423	Confirmed somatic variant	PMID: 22810696	primary	597
KAT6B_ENST00000372711	ENST00000372711	TCGA-GF-A2C7-01	skin	malignant_melanoma	38422122	c.3362C>A	p.P1121H	Substitution - Missense	NEUTRAL	.4496	Confirmed somatic variant	PMID: N/A	NS	1121
KAT6B_ENST00000372711	ENST00000372711	SJG-018	upper_aerodigestive_tract	carcinoma	38417982	c.1353A>C	p.S451=	Substitution - coding silent	PATHOGENIC	.97381	Confirmed somatic variant	PMID: 27693639	primary	451
KAT6B_ENST00000372711	ENST00000372711	442-02-5TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	38421961	c.2080+11555A>G	p.?	Unknown	NEUTRAL	.11529	Confirmed somatic variant	PMID: N/A	primary	0
KAT6B_ENST00000372711	ENST00000372711	CPCG0237-F1	prostate	carcinoma	38417616	c.621+30560dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
KAT6B_ENST00000372711	ENST00000372711	SJG-018	upper_aerodigestive_tract	carcinoma	38417970	c.1141T>A	p.C381S	Substitution - Missense	PATHOGENIC	.97291	Confirmed somatic variant	PMID: 27693639	primary	381
KAT6B_ENST00000372711	ENST00000372711	J32_T	lung	carcinoma	38425750	c.621+11635C>T	p.?	Unknown	NEUTRAL	.25888	Confirmed somatic variant	PMID: N/A	NS	0
KAT6B_ENST00000372711	ENST00000372711	CC17	large_intestine	carcinoma	38417209	c.5483del	p.G1828Afs*3	Deletion - Frameshift			Reported in another cancer sample as somatic	PMID: 29844865	NS	1828
KAT6B_ENST00000372711	ENST00000372711	0031_CRUK_PC_0031_T1_DNA	prostate	carcinoma	38418531	c.3610dup	p.S1204Kfs*21	Insertion - Frameshift			Confirmed somatic variant	PMID: N/A	primary	1204
KAT6B_ENST00000372711	ENST00000372711	TCGA-GN-A264-06	skin	malignant_melanoma	38416862	c.4877C>A	p.P1626Q	Substitution - Missense	PATHOGENIC	.90954	Confirmed somatic variant	PMID: N/A	NS	1626
KAT6B_ENST00000372711	ENST00000372711	TCGA-91-6848-01	lung	carcinoma	38423648	c.417C>A	p.L139=	Substitution - coding silent	PATHOGENIC	.73432	Variant of unknown origin	PMID: N/A	primary	139
KAT6B_ENST00000372711	ENST00000372711	J32_T	lung	carcinoma	38425754	c.621+28254G>A	p.?	Unknown	NEUTRAL	.01242	Confirmed somatic variant	PMID: N/A	NS	0
KAT6B_ENST00000372711	ENST00000372711	AML9	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	38421265	c.2081-891A>C	p.?	Unknown	NEUTRAL	.30995	Confirmed somatic variant	PMID: 22817890	NS	0
KAT6B_ENST00000372711	ENST00000372711	TCGA-IQ-A6SG-01	upper_aerodigestive_tract	carcinoma	38424923	c.291A>G	p.G97=	Substitution - coding silent	PATHOGENIC	.74606	Confirmed somatic variant	PMID: N/A	primary	97
KAT6B_ENST00000372711	ENST00000372711	tumor_4115001	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	38427645	c.621+29879C>T	p.?	Unknown	NEUTRAL	.00111	Confirmed somatic variant	PMID: N/A	primary	0
KAT6B_ENST00000372711	ENST00000372711	LICA-CN-HCC_WGS_016T	liver	other	38421708	c.621+41611A>G	p.?	Unknown	NEUTRAL	.00732	Confirmed somatic variant	PMID: N/A	primary	0
KAT6B_ENST00000372711	ENST00000372711	T_CCA_SG_15	biliary_tract	carcinoma	38417305	c.2081-801del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
KAT6B_ENST00000372711	ENST00000372711	SJMB010	central_nervous_system	primitive_neuroectodermal_tumour-medulloblastoma	38417410	c.1825-783A>G	p.?	Unknown	PATHOGENIC	.83895	Confirmed somatic variant	PMID: 22722829	primary	0
KAT6B_ENST00000372711	ENST00000372711	ZZUFHECRKL-G003T	oesophagus	carcinoma	38422467	c.1916A>G	p.E639G	Substitution - Missense	PATHOGENIC	.98918	Confirmed somatic variant	PMID: N/A	primary	639
KAT6B_ENST00000372711	ENST00000372711	LP6008141-DNA_H01	oesophagus	carcinoma	38427251	c.2823+181del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 852 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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Arthrogryposis	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.565	0.69
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.565	0.69
Noonan Syndrome	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.565	0.69
Juvenile-Onset Still Disease	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.565	0.69
Bipolar I disorder	N/A	0.565	0.69
Genitopatellar Syndrome	Musculoskeletal Diseases ; Nervous System Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.565	0.69
Young Simpson syndrome	Musculoskeletal Diseases ; Nervous System Diseases ; Eye Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.565	0.69
Juvenile arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.565	0.69
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.565	0.69
Juvenile psoriatic arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.565	0.69
NO RESULT FOUND

Description:	K(lysine) acetyltransferase 6A [Source:ZFIN;Acc:ZDB-GENE-021022-3]
Synonyms:
Other ID(s):	XB-GENE-6076141
Protein Accession Numbers:	XP_017948163
Statistics:	ClinVar(385) gnomAD(1318) COSMIC(852)

Classification of Clinicial Significance of ClinVar Data