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.R113fs

c.337_338fs

Surrounding Variants

1 paper

NM_012330.4

p.A114T

c.340G>A

1 paper

NM_012330.4

p.A114V

c.341C>T

1 paper

NM_012330.4

p.I115V

c.343A>G

1 paper

NM_012330.4

p.G117R

c.349G>A

1 paper

NM_012330.4

p.G117R

c.349G>C

1 paper

NM_012330.4

p.G117*

c.349G>T

1 paper

NM_012330.4

p.E120K

c.358G>A

2 papers

NM_012330.4

p.V105M

c.313G>A

5 papers

NM_012330.4

p.R103C

c.307C>T

1 paper

NM_012330.4

p.G123D

c.368G>A

1 paper

NM_012330.4

p.S124F

c.371C>T

1 paper

NM_012330.4

p.D101Y

c.301G>T