Varaico: Literature-Extracted Genetic Variants

Gene:NAA80
Variant:p.A146insFs

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
1 paper
NM_001200016.2
p.A146insFs
c.436dupG
Surrounding Variants
1 paper
NM_001200016.2
p.A146fs
c.436_437fs
1 paper
NM_001200016.2
p.R145W
c.433C>T
1 paper
NM_001200016.2
p.V143A
c.428T>C
1 paper
NM_001200016.2
p.V143fs
c.427_428fs
1 paper
NM_001200016.2
p.R148_G149delFs
c.444_445delCC
1 paper
NM_001200016.2
p.R150fs
c.448_449fs
1 paper
NM_001200016.2
p.V142insFs
c.425_426insCA
1 paper
NM_001200016.2
p.V142E
c.425T>A
1 paper
NM_001200016.2
p.V141delFs
c.423delC
1 paper
NM_001200016.2
p.G149insFs
c.447dupC
1 paper
NM_001200016.2
p.V142fs
c.424_425fs
1 paper
NM_001200016.2
p.V141M
c.421G>A
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