Varaico: Literature-Extracted Genetic Variants

KAT6B

460 papers

RefSeq Summary

The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional ac...

Pfam Domains

SAMD1_WHaa 11–73UCSCSAM domain-containing protein 1, WH domain

PHDaa 272–317UCSCPHD-finger

zf-MYSTaa 717–771UCSCMYST family zinc finger domain

MOZ_SASaa 776–954UCSCMOZ/SAS family

Gene Aliases

HGNC Name

lysine acetyltransferase 6B

HGNC Previous Symbol

MYST4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_012330.4

p.R1612C

c.4834C>T

Surrounding Variants

3 papers

NM_012330.4

p.R1612H

c.4835G>A

1 paper

NM_012330.4

p.V1611L

c.4831G>C

1 paper

NM_012330.4

p.V1611L

c.4831G>T

1 paper

NM_012330.4

p.V1611delFs

c.4831delG

1 paper

NM_012330.4

p.G1608fs

c.4822_4823fs

1 paper

NM_012330.4

p.G1608delFs

c.4823delG

1 paper

NM_012330.4

p.V1603I

c.4807G>A

1 paper

NM_012330.4

p.V1603_S1605del3

c.4807_4814del9

1 paper

NM_012330.4

p.V1600F

c.4798G>T

1 paper

NM_012330.4

p.I1629delFs

c.4887delC

1 paper

NM_012330.4

p.P1631_D1632del2

c.4891_4895del6

1 paper

NM_012330.4

p.Q1633_I1636delFs

c.4898_4908del11