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

4 papers

NM_012330.4

p.E1076_D1077del1

c.3228_3230delGGA

Surrounding Variants

1 paper

NM_012330.4

p.E1073fs

c.3217_3218fs

1 paper

NM_012330.4

p.E1073fs

c.3217_3218fs

1 paper

NM_012330.4

p.E1072Q

c.3214G>C

1 paper

NM_012330.4

p.E1072delFs

c.3216delA

2 papers

NM_012330.4

p.E1074_D1077del0

c.3220_3231del12

1 paper

NM_012330.4

p.E1072_E1073del1

c.3216_3218delAGA

1 paper

NM_012330.4

p.E1076E

c.3228G>A

1 paper

NM_012330.4

p.E1076D

c.3228G>C

1 paper

NM_012330.4

p.E1076D

c.3228G>T

1 paper

NM_012330.4

p.S1068fs

c.3202_3203fs

6 papers

NM_012330.4

p.D1077E

c.3231C>A

6 papers

NM_012330.4

p.D1077E

c.3231C>G