Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.P432S

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.P432S
c.1294C>T
Surrounding Variants
1 paper
NM_001365896.1
p.P432H
c.1295C>A
1 paper
NM_001365896.1
p.S435A
c.1303T>G
1 paper
NM_001365896.1
p.V443_T444ins1
c.1329_1330insGTG
2 papers
NM_001365896.1
p.K416R
c.1247A>G
1 paper
NM_001365896.1
p.L415F
c.1243C>T
1 paper
NM_001365896.1
p.L413R
c.1238T>G
1 paper
NM_001365896.1
p.T456_F457del0
c.1366_1371del6
4 papers
NM_001365896.1
p.F405S
c.1214T>C
3 papers
NM_001365896.1
p.V401I
c.1201G>A
1 paper
NM_001365896.1
p.S396Y
c.1187C>A
1 paper
NM_001365896.1
p.S389P
c.1165T>C
1 paper
NM_001365896.1
p.P480T
c.1438C>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."