Varaico: Literature-Extracted Genetic Variants

Gene:NAA80
Variant:p.R222W

NAA80

28 papers

RefSeq Summary

This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded pro...

Pfam Domains

Acetyltransf_1aa 72–188UCSCAcetyltransferase (GNAT) family

Gene Aliases

HGNC Name

N-alpha-acetyltransferase 80, NatH catalytic subunit

HGNC Previous Symbol

NAT6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001200016.2
p.R222W
c.664A>T
Surrounding Variants
1 paper
NM_001200016.2
p.T207S
c.620C>G
1 paper
NM_001200016.2
p.T207S
c.619A>T
1 paper
NM_001200016.2
p.I253T
c.758T>C
1 paper
NM_001200016.2
p.R277H
c.830G>A
1 paper
NM_001200016.2
p.R165L
c.494G>T
1 paper
NM_001200016.2
p.R165Q
c.494G>A
1 paper
NM_001200016.2
p.R165W
c.493C>T
1 paper
NM_001200016.2
p.R154H
c.461G>A
1 paper
NM_001200016.2
p.G149insFs
c.447dupC
1 paper
NM_001200016.2
p.R150fs
c.448_449fs
1 paper
NM_001200016.2
p.R148_G149delFs
c.444_445delCC
1 paper
NM_001200016.2
p.A146insFs
c.436dupG
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