Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.T233I

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.T233I
c.698C>T
Surrounding Variants
1 paper
NM_001365896.1
p.V246I
c.736G>A
1 paper
NM_001365896.1
p.H215R
c.644A>G
1 paper
NM_001365896.1
p.P205L
c.614C>T
1 paper
NM_001365896.1
p.E194G
c.581A>G
1 paper
NM_001365896.1
p.N189S
c.566A>G
1 paper
NM_001365896.1
p.T186P
c.556A>C
1 paper
NM_001365896.1
p.S288C
c.863C>G
1 paper
NM_001365896.1
p.T174A
c.520A>G
2 papers
NM_001365896.1
p.P299_D300insFs
c.897_898insC
2 papers
NM_001365896.1
p.P299fs
c.895_896fs
1 paper
NM_001365896.1
p.D300H
c.898G>C
1 paper
NM_001365896.1
p.D300N
c.898G>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."