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.Q1513insFs

c.4538dupA

Surrounding Variants

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

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

1 paper

NM_012330.4

p.P1507_K1514del8

c.4519_4541del24

1 paper

NM_012330.4

p.E1504K

c.4510G>A

1 paper

NM_012330.4

p.D1524N

c.4570G>A

3 papers

NM_012330.4

p.D1524_T1525insFs

c.4572_4573dupTA

3 papers

NM_012330.4

p.D1524insFs

c.4572dupT

1 paper

NM_012330.4

p.T1525fs

c.4573_4574fs