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.K1380fs

c.4138_4139fs

Surrounding Variants

1 paper

NM_012330.4

p.D1381H

c.4141G>C

1 paper

NM_012330.4

p.E1379fs

c.4135_4136fs

1 paper

NM_012330.4

p.K1380delFs

c.4139_4140delAA

1 paper

NM_012330.4

p.P1382L

c.4145C>T

1 paper

NM_012330.4

p.N1377delFs

c.4131delT

2 papers

NM_012330.4

p.N1377fs

c.4129_4130fs

1 paper

NM_012330.4

p.E1373G

c.4118A>G

1 paper

NM_012330.4

p.E1373*

c.4117G>T

1 paper

NM_012330.4

p.Q1388*

c.4162C>T

4 papers

NM_012330.4

p.E1372*

c.4114G>T

1 paper

NM_012330.4

p.E1389K

c.4165G>A

1 paper

NM_012330.4

p.E1371fs

c.4111_4112fs