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.Q1916*

c.5746C>T

Surrounding Variants

2 papers

NM_012330.4

p.I1917V

c.5749A>G

1 paper

NM_012330.4

p.S1919N

c.5756G>A

5 papers

NM_012330.4

p.R1912*

c.5734A>T

4 papers

NM_012330.4

p.Q1911*

c.5731C>T

1 paper

NM_012330.4

p.S1929L

c.5786C>T

1 paper

NM_012330.4

p.A1930V

c.5789C>T

2 papers

NM_012330.4

p.L1932_S1933delFs

c.5795_5798del4

2 papers

NM_012330.4

p.L1932fs

c.5794_5795fs

1 paper

NM_012330.4

p.R1898Q

c.5693G>A

2 papers

NM_012330.4

p.P1934delFs

c.5802delA

1 paper

NM_012330.4

p.A1935fs

c.5803_5804fs

2 papers

NM_012330.4

p.A1935fs

c.5803_5804fs