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.S1296*

c.3887C>G

Surrounding Variants

1 paper

NM_012330.4

p.S1296*

c.3887C>A

1 paper

NM_012330.4

p.E1297V

c.3890A>T

8 papers

NM_012330.4

p.G1298*

c.3892G>T

1 paper

NM_012330.4

p.T1300insFs

c.3898dupA

7 papers

NM_012330.4

p.K1293*

c.3877A>T

1 paper

NM_012330.4

p.Q1292R

c.3875A>G

1 paper

NM_012330.4

p.S1301delFs

c.3903delC

2 papers

NM_012330.4

p.S1303G

c.3907A>G

1 paper

NM_012330.4

p.S1303fs

c.3907_3908fs

1 paper

NM_012330.4

p.I1305insFs

c.3914_3915insC

1 paper

NM_012330.4

p.R1306_I1307insFs

c.3918_3919ins7

2 papers

NM_012330.4

p.V1287fs

c.3859_3860fs