Varaico: Literature-Extracted Genetic Variants

Gene:NAA20
Variant:p.Y123F

NAA20

20 papers

RefSeq Summary

NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et ...

Pfam Domains

Acetyltransf_1aa 3–116UCSCAcetyltransferase (GNAT) family

Gene Aliases

HGNC Name

N-alpha-acetyltransferase 20, NatB catalytic subunit

HGNC Previous Symbol

NAT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016100.5
p.Y123F
c.368A>T
Surrounding Variants
1 paper
NM_016100.5
p.S115fs
c.343_344fs
1 paper
NM_016100.5
p.V114A
c.341T>C
1 paper
NM_016100.5
p.V114_S115delFs
c.341_344del4
1 paper
NM_016100.5
p.Y137C
c.410A>G
1 paper
NM_016100.5
p.D109_F111del3
c.325_332del9
1 paper
NM_016100.5
p.G87A
c.260G>C
2 papers
NM_016100.5
p.A80V
c.239C>T
1 paper
NM_016100.5
p.V79F
c.235G>T
1 paper
NM_016100.5
p.L77V
c.229C>G
1 paper
NM_016100.5
p.G63S
c.187G>A
2 papers
NM_016100.5
p.I57Splc
c.170-1G>A
3 papers
NM_016100.5
p.M54V
c.160A>G
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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."