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.E1411*

c.4231G>T

Surrounding Variants

1 paper

NM_012330.4

p.E1409*

c.4225G>T

1 paper

NM_012330.4

p.E1414*

c.4240G>T

1 paper

NM_012330.4

p.D1415N

c.4243G>A

1 paper

NM_012330.4

p.R1404H

c.4211G>A

1 paper

NM_012330.4

p.S1402C

c.4205C>G

2 papers

NM_012330.4

p.S1402fs

c.4204_4205fs

13 papers

NM_012330.4

p.S1402fs

c.4204_4205fs

12 papers

NM_012330.4

p.S1402delFs

c.4205_4206delCT

1 paper

NM_012330.4

p.D1423A

c.4268A>C

1 paper

NM_012330.4

p.D1423G

c.4268A>G

1 paper

NM_012330.4

p.D1423V

c.4268A>T

1 paper

NM_012330.4

p.E1398V

c.4193A>T