Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.N517S

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.N517S
c.1550A>G
Surrounding Variants
2 papers
NM_001365896.1
p.P519S
c.1555C>T
1 paper
NM_001365896.1
p.S520C
c.1558A>T
1 paper
NM_001365896.1
p.S520I
c.1559G>T
1 paper
NM_001365896.1
p.S520insFs
c.1559_1560insT
1 paper
NM_001365896.1
p.S520fs
c.1558_1559fs
3 papers
NM_001365896.1
p.R502M
c.1505G>T
1 paper
NM_001365896.1
p.T499I
c.1496C>T
2 papers
NM_001365896.1
p.S538F
c.1613C>T
1 paper
NM_001365896.1
p.G550E
c.1649G>A
1 paper
NM_001365896.1
p.P480T
c.1438C>A
1 paper
NM_001365896.1
p.P571L
c.1712C>T
1 paper
NM_001365896.1
p.T456_F457del0
c.1366_1371del6
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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."