Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.S132F

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
1 paper
NM_001365896.1
p.S132F
c.395C>T
Surrounding Variants
1 paper
NM_001365896.1
p.S132A
c.394T>G
1 paper
NM_001365896.1
p.S132P
c.394T>C
1 paper
NM_001365896.1
p.S133P
c.397T>C
1 paper
NM_001365896.1
p.A135T
c.403G>A
1 paper
NM_001365896.1
p.P125L
c.374C>T
1 paper
NM_001365896.1
p.L142R
c.425T>G
1 paper
NM_001365896.1
p.S120P
c.358T>C
1 paper
NM_001365896.1
p.A119fs
c.355_356fs
1 paper
NM_001365896.1
p.L118insFs
c.354dupA
1 paper
NM_001365896.1
p.S146P
c.436T>C
1 paper
NM_001365896.1
p.A117P
c.349G>C
3 papers
NM_001365896.1
p.K149E
c.445A>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."