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

10 papers

NM_012330.4

p.K1263fs

c.3787_3788fs

Surrounding Variants

1 paper

NM_012330.4

p.K1263fs

c.3787_3788fs

7 papers

NM_012330.4

p.K1263delFs

c.3788_3789delAA

1 paper

NM_012330.4

p.R1265fs

c.3793_3794fs

1 paper

NM_012330.4

p.W1259fs

c.3775_3776fs

5 papers

NM_012330.4

p.W1259fs

c.3775_3776fs

1 paper

NM_001256468.2

p.T1084T

c.3252C>T

1 paper

NM_012330.4

p.K1258fs

c.3772_3773fs

11 papers

NM_012330.4

p.K1258fs

c.3772_3773fs

1 paper

NM_012330.4

p.G1268R

c.3802G>A

1 paper

NM_012330.4

p.G1268R

c.3802G>C

7 papers

NM_012330.4

p.G1268*

c.3802G>T

1 paper

NM_012330.4

p.G1268A

c.3803G>C