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

2 papers

NM_012330.4

p.T1587R

c.4760C>G

Surrounding Variants

2 papers

NM_012330.4

p.T1587S

c.4759A>T

3 papers

NM_012330.4

p.R1577C

c.4729C>T

4 papers

NM_012330.4

p.R1577fs

c.4729_4730fs

1 paper

NM_012330.4

p.Y1575N

c.4723T>A

1 paper

NM_012330.4

p.T1576delFs

c.4726_4727delAC

1 paper

NM_012330.4

p.N1574K

c.4722C>A

1 paper

NM_012330.4

p.N1574K

c.4722C>G

1 paper

NM_012330.4

p.V1600F

c.4798G>T

1 paper

NM_012330.4

p.V1603_S1605del3

c.4807_4814del9

1 paper

NM_012330.4

p.V1603I

c.4807G>A

1 paper

NM_012330.4

p.C1569Y

c.4706G>A

1 paper

NM_012330.4

p.G1608delFs

c.4823delG