Varaico: Literature-Extracted Genetic Variants

Gene:KAT8
Variant:p.C316S

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
3 papers
NM_032188.3
p.C316S
c.947G>C
Surrounding Variants
3 papers
NM_032188.3
p.C316S
c.946T>A
1 paper
NM_032188.3
p.C316R
c.946T>C
1 paper
NM_032188.3
p.V314A
c.941T>C
1 paper
NM_032188.3
p.R325S
c.973C>A
1 paper
NM_032188.3
p.R325C
c.973C>T
1 paper
NM_032188.3
p.G327D
c.980G>A
1 paper
NM_032188.3
p.E305Q
c.913G>C
1 paper
NM_032188.3
p.K330R
c.989A>G
1 paper
NM_032188.3
p.K304R
c.911A>G
1 paper
NM_032188.3
p.Y301*
c.903C>A
1 paper
NM_032188.3
p.Y301*
c.903C>G
1 paper
NM_032188.3
p.E338D
c.1014G>C
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