Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.S1190P

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.S1190P
c.3568T>C
Surrounding Variants
1 paper
NM_001365896.1
p.G1185D
c.3554G>A
1 paper
NM_001365896.1
p.T1197P
c.3589A>C
1 paper
NM_001365896.1
p.P1182L
c.3545C>T
1 paper
NM_001365896.1
p.P1198L
c.3593C>T
1 paper
NM_001365896.1
p.P1202S
c.3604C>T
1 paper
NM_001365896.1
p.A1176D
c.3527C>A
1 paper
NM_001365896.1
p.G1208_L1209delFs
c.3624_3627del4
1 paper
NM_001365896.1
p.P1167L
c.3500C>T
1 paper
NM_001365896.1
p.S1213P
c.3637T>C
1 paper
NM_001365896.1
p.P1166T
c.3496C>A
1 paper
NM_001365896.1
p.P1214H
c.3641C>A
1 paper
NM_001365896.1
p.P1159Fs
c.3477delinsCAFs
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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."