Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.P1834S

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.P1834S
c.5500C>T
Surrounding Variants
1 paper
NM_001365896.1
p.D1838E
c.5514T>G
1 paper
NM_001365896.1
p.D1838E
c.5514T>A
1 paper
NM_001365896.1
p.L1841P
c.5522T>C
1 paper
NM_001365896.1
p.P1821T
c.5461C>A
1 paper
NM_001365896.1
p.P1818L
c.5453C>T
1 paper
NM_001365896.1
p.L1810V
c.5428C>G
1 paper
NM_001365896.1
p.P1863S
c.5587C>T
2 papers
NM_001365896.1
p.S1795T
c.5383T>A
1 paper
NM_001365896.1
p.P1764S
c.5290C>T
1 paper
NM_001365896.1
p.Q1742E
c.5224C>G
1 paper
NM_001365896.1
p.K1682R
c.5045A>G
1 paper
NM_001365896.1
p.P1673fs
c.5017_5018fs
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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."