Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.H1122Q

NACA

127 papers

RefSeq Summary

This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal...

Pfam Domains

NACaa 73–129UCSCNAC domain
NACaa 73–129UCSCNAC domain
UBA_HYPKaa 174–214UCSCHYPK UBA domain
UBA_HYPKaa 174–214UCSCHYPK UBA domain

Gene Aliases

HGNC Name

nascent polypeptide associated complex subunit alpha

HGNC Alias Symbols

NACA1; Alpha-NAC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001365896.1
p.H1122Q
c.3366C>G
Surrounding Variants
1 paper
NM_001365896.1
p.H1122fs
c.3364_3365fs
3 papers
NM_001365896.1
p.H1122Q
c.3366C>A
1 paper
NM_001365896.1
p.P1121S
c.3361C>T
1 paper
NM_001365896.1
p.G1124fs
c.3370_3371fs
1 paper
NM_001365896.1
p.A1125A
c.3375A>C
2 papers
NM_001365896.1
p.T1128P
c.3382A>C
1 paper
NM_001365896.1
p.G1115fs
c.3343_3344fs
1 paper
NM_001365896.1
p.K1114fs
c.3340_3341fs
1 paper
NM_001365896.1
p.P1134L
c.3401C>T
1 paper
NM_001365896.1
p.M1104I
c.3312G>T
1 paper
NM_001365896.1
p.M1104I
c.3312G>C
1 paper
NM_001365896.1
p.M1104I
c.3312G>A
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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."