Varaico: Literature-Extracted Genetic Variants

Gene:NAT10
Variant:p.Y461H

NAT10

83 papers

RefSeq Summary

The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and c...

Pfam Domains

TmcA_Naa 1–202UCSCtRNA(Met) cytidine acetyltransferase TmcA, N-terminal
NAT10_TcmA_helicaseaa 281–488UCSCRNA cytidine acetyltransferase NAT10/TcmA, helicase domain
GNAT_acetyltr_2aa 528–753UCSCGNAT acetyltransferase 2
tRNA_bind_2aa 763–976UCSCPossible tRNA binding domain

Gene Aliases

HGNC Name

N-acetyltransferase 10

HGNC Alias Symbols

hALP; FLJ10774; FLJ12179; NET43; KIAA1709; Kre33

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024662.3
p.Y461H
c.1381T>C
Surrounding Variants
1 paper
NM_024662.3
p.E462K
c.1384G>A
1 paper
NM_024662.3
p.R470*
c.1408C>T
1 paper
NM_024662.3
p.A472T
c.1414G>A
1 paper
NM_024662.3
p.N491D
c.1471A>G
1 paper
NM_024662.3
p.A452T
c.1354G>A
1 paper
NM_024662.3
p.T449M
c.1346C>T
1 paper
NM_024662.3
p.A444A
c.1332T>C
3 papers
NM_024662.3
p.K426R
c.1277A>G
1 paper
NM_024662.3
p.S424F
c.1271C>T
1 paper
NM_024662.3
p.K520R
c.1559A>G
1 paper
NM_024662.3
p.R528Q
c.1583G>A
1 paper
NM_024662.3
p.V534M
c.1600G>A
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