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

9 papers

NM_012330.4

p.Y176*

c.528T>A

Surrounding Variants

9 papers

NM_012330.4

p.Y176*

c.528T>G

6 papers

NM_012330.4

p.Y176insFs

c.527dupA

1 paper

NM_012330.4

p.S178N

c.533G>A

1 paper

NM_012330.4

p.R173G

c.517A>G

1 paper

NM_012330.4

p.D180V

c.539A>T

1 paper

NM_012330.4

p.Y172_R173delFs

c.516_519del4

1 paper

NM_012330.4

p.Y172fs

c.514_515fs

1 paper

NM_012330.4

p.Y172_R173delFs

c.514_518del5

1 paper

NM_012330.4

p.G183V

c.548G>T

2 papers

NM_012330.4

p.G169R

c.505G>A

1 paper

NM_012330.4

p.G169R

c.505G>C

1 paper

NM_012330.4

p.S189C

c.565A>T