Varaico: Literature-Extracted Genetic Variants

Gene:NAA80
Variant:p.N80Y

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.N80Y
c.238A>T
Surrounding Variants
1 paper
NM_001200016.2
p.A54D
c.161C>A
1 paper
NM_001200016.2
p.T52N
c.155C>A
1 paper
NM_001200016.2
p.L108P
c.323T>C
2 papers
NM_001200016.2
p.V119I
c.355G>A
1 paper
NM_001200016.2
p.E40K
c.118G>A
1 paper
NM_001200016.2
p.G37V
c.110G>T
1 paper
NM_001200016.2
p.R125H
c.374G>A
1 paper
NM_001200016.2
p.R128W
c.382C>T
3 papers
NM_001200016.2
p.L130P
c.389T>C
1 paper
NM_001200016.2
p.L22M
c.64C>A
1 paper
NM_001200016.2
p.V141M
c.421G>A
1 paper
NM_001200016.2
p.V142fs
c.424_425fs
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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."