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.V1287_T1288delFs

c.3860_3863del4

Surrounding Variants

2 papers

NM_012330.4

p.V1287fs

c.3859_3860fs

2 papers

NM_012330.4

p.D1284fs

c.3850_3851fs

2 papers

NM_012330.4

p.D1284_T1288delFs

c.3852_3864del13

1 paper

NM_012330.4

p.Q1292R

c.3875A>G

7 papers

NM_012330.4

p.K1293*

c.3877A>T

1 paper

NM_012330.4

p.E1278K

c.3832G>A

1 paper

NM_012330.4

p.S1296*

c.3887C>A

1 paper

NM_012330.4

p.S1296*

c.3887C>G

1 paper

NM_012330.4

p.E1297V

c.3890A>T

1 paper

NM_012330.4

p.P1276L

c.3827C>T

1 paper

NM_012330.4

p.P1276A

c.3826C>G

8 papers

NM_012330.4

p.G1298*

c.3892G>T