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.I17V

c.49A>G

Surrounding Variants

1 paper

NM_012330.4

p.K19delFs

c.55delA

1 paper

NM_012330.4

p.K19fs

c.55_56fs

1 paper

NM_012330.4

p.E15Q

c.43G>C

1 paper

NM_012330.4

p.K19K

c.57A>G

1 paper

NM_012330.4

p.I13N

c.38T>A

1 paper

NM_012330.4

p.K21Q

c.61A>C

1 paper

NM_012330.4

p.L8L

c.24T>A

1 paper

NM_012330.4

p.A5P

c.13G>C

1 paper

NM_012330.4

p.E30K

c.88G>A

1 paper

NM_012330.4

p.E30A

c.89A>C

1 paper

NM_012330.4

p.V2insFs

c.5dupT

1 paper

NM_012330.4

p.M1_V2insFs

c.3_4insA