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.A1790T

c.5368G>A

Surrounding Variants

3 papers

NM_012330.4

p.A1790_N1791insFs

c.5370_5373dup4

1 paper

NM_012330.4

p.N1789_A1790delFs

c.5367_5368delCG

2 papers

NM_012330.4

p.I1792fs

c.5374_5375fs

1 paper

NM_012330.4

p.E1786K

c.5356G>A

1 paper

NM_012330.4

p.P1785S

c.5353C>T

2 papers

NM_012330.4

p.Y1795*

c.5385C>A

2 papers

NM_012330.4

p.Y1795*

c.5385C>G

1 paper

NM_012330.4

p.E1796K

c.5386G>A

1 paper

NM_012330.4

p.E1796Q

c.5386G>C

14 papers

NM_012330.4

p.R1797*

c.5389C>T

1 paper

NM_012330.4

p.R1797Q

c.5390G>A

1 paper

NM_012330.4

p.Q1780R

c.5339A>G