Varaico: Literature-Extracted Genetic Variants

Gene:KAT8
Variant:p.R99Q

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
4 papers
NM_032188.3
p.R99Q
c.296G>A
Surrounding Variants
1 paper
NM_032188.3
p.R99W
c.295C>T
1 paper
NM_032188.3
p.R98Q
c.293G>A
5 papers
NM_032188.3
p.R98W
c.292C>T
1 paper
NM_032188.3
p.E102K
c.304G>A
1 paper
NM_032188.3
p.V104L
c.310G>C
1 paper
NM_032188.3
p.V104L
c.310G>T
1 paper
NM_032188.3
p.K113R
c.338A>G
1 paper
NM_032188.3
p.H92R
c.275A>G
1 paper
NM_032188.3
p.Q133L
c.398A>T
2 papers
NM_032188.3
p.Y90C
c.269A>G
1 paper
NM_032188.3
p.R140C
c.418C>T
4 papers
NM_032188.3
p.R140H
c.419G>A
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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."