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.S82A

c.244T>G

Surrounding Variants

1 paper

NM_012330.4

p.K84R

c.251A>G

2 papers

NM_012330.4

p.R79H

c.236G>A

1 paper

NM_012330.4

p.P85P

c.255A>C

1 paper

NM_012330.4

p.G86D

c.257G>A

1 paper

NM_012330.4

p.D75V

c.224A>T

1 paper

NM_012330.4

p.S95C

c.284C>G

1 paper

NM_012330.4

p.G97V

c.290G>T

1 paper

NM_012330.4

p.C99_D101delFs

c.296_302del7

2 papers

NM_012330.4

p.C99Y

c.296G>A

1 paper

NM_012330.4

p.V63V

c.189C>T

1 paper

NM_012330.4

p.D101Y

c.301G>T

1 paper

NM_012330.4

p.K62delFs

c.185delA