Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.N1531T

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.N1531T
c.4592A>C
Surrounding Variants
1 paper
NM_012330.4
p.N1531fs
c.4591_4592fs
5 papers
NM_012330.4
p.N1531fs
c.4591_4592fs
1 paper
NM_012330.4
p.A1533_M1535delFs
c.4597_4603del7
1 paper
NM_012330.4
p.N1531_V1542del12
c.4591_4625del36
3 papers
NM_012330.4
p.N1531delFs
c.4592delA
1 paper
NM_012330.4
p.A1533fs
c.4597_4598fs
1 paper
NM_012330.4
p.A1533fs
c.4597_4598fs
1 paper
NM_012330.4
p.T1534P
c.4600A>C
1 paper
NM_012330.4
p.T1534T
c.4602C>T
1 paper
NM_012330.4
p.F1527delFs
c.4581delC
1 paper
NM_012330.4
p.E1526fs
c.4576_4577fs
1 paper
NM_012330.4
p.T1525fs
c.4573_4574fs
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