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.E1504K

c.4510G>A

Surrounding Variants

1 paper

NM_012330.4

p.P1507_K1514del8

c.4519_4541del24

5 papers

NM_012330.4

p.V1499I

c.4495G>A

1 paper

NM_012330.4

p.A1498T

c.4492G>A

1 paper

NM_012330.4

p.Q1513insFs

c.4538dupA

1 paper

NM_012330.4

p.Q1513E

c.4537C>G

1 paper

NM_012330.4

p.K1514fs

c.4540_4541fs

1 paper

NM_012330.4

p.K1514T

c.4541A>C

1 paper

NM_012330.4

p.A1493V

c.4478C>T

3 papers

NM_012330.4

p.Q1515*

c.4543C>T

1 paper

NM_012330.4

p.D1516N

c.4546G>A

3 papers

NM_012330.4

p.D1516Y

c.4546G>T

2 papers

NM_012330.4

p.E1491*

c.4471G>T