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.F1815fs

c.5443_5444fs

Surrounding Variants

1 paper

NM_012330.4

p.Q1810*

c.5428C>T

5 papers

NM_012330.4

p.Y1808*

c.5424C>A

5 papers

NM_012330.4

p.Y1808*

c.5424C>G

1 paper

NM_012330.4

p.A1805V

c.5414C>T

5 papers

NM_012330.4

p.S1831*

c.5492C>A

NM_001256468.2

p.S1648*

c.4943C>A

5 papers

NM_001256468.2

p.S1648*

c.4943C>G

NM_012330.4

p.S1831*

c.5492C>G

1 paper

NM_012330.4

p.R1797Q

c.5390G>A

14 papers

NM_012330.4

p.R1797*

c.5389C>T

1 paper

NM_012330.4

p.E1796K

c.5386G>A

1 paper

NM_012330.4

p.E1796Q

c.5386G>C

2 papers

NM_012330.4

p.Y1795*

c.5385C>A

2 papers

NM_012330.4

p.Y1795*

c.5385C>G