Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.G2044A

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.G2044A
c.6131G>C
Surrounding Variants
1 paper
NM_012330.4
p.T2030S
c.6089C>G
1 paper
NM_012330.4
p.T2030S
c.6088A>T
1 paper
NM_012330.4
p.G2026V
c.6077G>T
1 paper
NM_012330.4
p.M2071T
c.6212T>C
2 papers
NM_012330.4
p.G2011fs
c.6031_6032fs
1 paper
NM_012330.4
p.G2011C
c.6031G>T
1 paper
NM_012330.4
p.G2011delFs
c.6031delG
1 paper
NM_012330.4
p.Y2006*
c.6018C>A
1 paper
NM_012330.4
p.Y2006*
c.6018C>G
1 paper
NM_012330.4
p.S1998T
c.5992T>A
1 paper
NM_012330.4
p.T1988A
c.5962A>G
1 paper
NM_012330.4
p.T1988delFs
c.5962delA
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