Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.E651*

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.E651*
c.1951G>T
Surrounding Variants
1 paper
NM_001365896.1
p.P649S
c.1945C>T
1 paper
NM_001365896.1
p.A656V
c.1967C>T
1 paper
NM_001365896.1
p.V658delFs
c.1972delC
1 paper
NM_001365896.1
p.V658fs
c.1972_1973fs
1 paper
NM_001365896.1
p.V681I
c.2041G>A
1 paper
NM_001365896.1
p.P689S
c.2065C>T
1 paper
NM_001365896.1
p.P689L
c.2066C>T
1 paper
NM_001365896.1
p.T703P
c.2107A>C
1 paper
NM_001365896.1
p.E706G
c.2117A>G
1 paper
NM_001365896.1
p.S713P
c.2137T>C
1 paper
NM_001365896.1
p.A722V
c.2165C>T
1 paper
NM_001365896.1
p.P571L
c.1712C>T
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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."