Varaico: Literature-Extracted Genetic Variants

Gene:NAA60
Variant:p.E118Q

NAA60

28 papers

RefSeq Summary

This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important fo...

Pfam Domains

Acetyltransf_1aa 23–155UCSCAcetyltransferase (GNAT) family
Acetyltransf_1aa 23–155UCSCAcetyltransferase (GNAT) family
Acetyltransf_1aa 23–155UCSCAcetyltransferase (GNAT) family

Gene Aliases

HGNC Name

N-alpha-acetyltransferase 60, NatF catalytic subunit

HGNC Previous Symbol

NAT15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001083601.3
p.E118Q
c.352G>C
Surrounding Variants
1 paper
NM_001083601.3
p.E118A
c.353A>C
1 paper
NM_001083601.3
p.K121R
c.362A>G
1 paper
NM_001083601.3
p.G113fs
c.337_338fs
1 paper
NM_001083601.3
p.G113Splc
c.338-1G>C
1 paper
NM_001083601.3
p.G113_S119delFs
c.338_357del20
1 paper
NM_001083601.3
p.A128P
c.382G>C
2 papers
NM_001083601.3
p.H131Y
c.391C>T
2 papers
NM_001083601.3
p.N143T
c.428A>C
1 paper
NM_001083601.3
p.D154delFs
c.460_461delGA
1 paper
NM_001083601.3
p.D154fs
c.460_461fs
1 paper
NM_001083601.3
p.K156R
c.467A>G
1 paper
NM_001083601.3
p.Y164F
c.491A>T
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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."