Varaico: Literature-Extracted Genetic Variants

Gene:KAT8
Variant:p.K181N

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
2 papers
NM_032188.3
p.K181N
c.543G>C
Surrounding Variants
2 papers
NM_032188.3
p.K181N
c.543G>T
1 paper
NM_032188.3
p.K177_D180delFs
c.531_540del10
1 paper
NM_032188.3
p.K175T
c.524A>C
1 paper
NM_032188.3
p.K175E
c.523A>G
1 paper
NM_032188.3
p.K175*
c.523A>T
1 paper
NM_032188.3
p.G202W
c.604G>T
1 paper
NM_032188.3
p.M217L
c.649A>C
1 paper
NM_032188.3
p.M217V
c.649A>G
1 paper
NM_032188.3
p.M217L
c.649A>T
1 paper
NM_032188.3
p.S222R
c.664A>C
1 paper
NM_032188.3
p.S222R
c.666C>A
1 paper
NM_032188.3
p.S222R
c.666C>G
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