Varaico: Literature-Extracted Genetic Variants

Gene:KAT8
Variant:p.A47V

KAT8

113 papers

RefSeq Summary

This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins ...

Pfam Domains

Tudor-knotaa 55–111UCSCRNA binding activity-knot of a chromodomain
zf-MYSTaa 176–230UCSCMYST family zinc finger domain
MOZ_SASaa 235–412UCSCMOZ/SAS family

Gene Aliases

HGNC Name

lysine acetyltransferase 8

HGNC Previous Symbol

MYST1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032188.3
p.A47V
c.140C>T
Surrounding Variants
1 paper
NM_032188.3
p.E50K
c.148G>A
1 paper
NM_032188.3
p.S42C
c.125C>G
1 paper
NM_032188.3
p.S37T
c.109T>A
1 paper
NM_032188.3
p.Y61S
c.182A>C
2 papers
NM_032188.3
p.A29V
c.86C>T
1 paper
NM_032188.3
p.E22K
c.64G>A
1 paper
NM_032188.3
p.E20G
c.59A>G
1 paper
NM_032188.3
p.V17G
c.50T>G
1 paper
NM_032188.3
p.G13V
c.38G>T
1 paper
NM_032188.3
p.Q4H
c.12G>C
1 paper
NM_032188.3
p.R79Q
c.236G>A
1 paper
NM_032188.3
p.V80G
c.239T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."