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

1 paper

NM_012330.4

p.Q1860_L1861del2

c.5578_5582del6

Surrounding Variants

1 paper

NM_012330.4

p.Q1863*

c.5587C>T

1 paper

NM_012330.4

p.V1868I

c.5602G>A

1 paper

NM_012330.4

p.S1846T

c.5537G>C

2 papers

NM_012330.4

p.Q1875insFs

c.5623_5624dupCA

1 paper

NM_012330.4

p.Q1875fs

c.5623_5624fs

1 paper

NM_012330.4

p.Q1875delFs

c.5624_5625delAA

4 papers

NM_012330.4

p.Q1875fs

c.5623_5624fs

1 paper

NM_012330.4

p.A1876fs

c.5626_5627fs

4 papers

NM_012330.4

p.A1876fs

c.5626_5627fs

1 paper

NM_012330.4

p.T1879S

c.5636C>G

2 papers

NM_012330.4

p.A1838T

c.5512G>A

1 paper

NM_012330.4

p.A1838S

c.5512G>T