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.Q56E

c.166C>G

Surrounding Variants

3 papers

NM_012330.4

p.S59*

c.176C>A

4 papers

NM_012330.4

p.S59*

c.176C>G

1 paper

NM_012330.4

p.K62delFs

c.185delA

1 paper

NM_012330.4

p.V63V

c.189C>T

1 paper

NM_012330.4

p.V47D

c.140T>A

1 paper

NM_012330.4

p.L42V

c.124T>G

1 paper

NM_012330.4

p.D75V

c.224A>T

1 paper

NM_012330.4

p.A35V

c.104C>T

2 papers

NM_012330.4

p.R79H

c.236G>A

1 paper

NM_012330.4

p.E30A

c.89A>C

1 paper

NM_012330.4

p.E30K

c.88G>A

1 paper

NM_012330.4

p.S82A

c.244T>G