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

7 papers

NM_012330.4

p.Q1768*

c.5302C>T

Surrounding Variants

1 paper

NM_012330.4

p.P1760L

c.5279C>T

1 paper

NM_012330.4

p.Q1780R

c.5339A>G

2 papers

NM_012330.4

p.Q1752*

c.5254C>T

1 paper

NM_012330.4

p.P1751H

c.5252C>A

1 paper

NM_012330.4

p.P1785S

c.5353C>T

1 paper

NM_012330.4

p.E1786K

c.5356G>A

1 paper

NM_012330.4

p.N1789_A1790delFs

c.5367_5368delCG

1 paper

NM_012330.4

p.C1746*

c.5238C>A

1 paper

NM_012330.4

p.A1790T

c.5368G>A

3 papers

NM_012330.4

p.A1790_N1791insFs

c.5370_5373dup4

2 papers

NM_012330.4

p.I1792fs

c.5374_5375fs

1 paper

NM_012330.4

p.P1743_P1744ins9

c.5227_5231ins27