Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.S1236P

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.S1236P
c.3706T>C
Surrounding Variants
1 paper
NM_001365896.1
p.K1238delFs
c.3714delT
1 paper
NM_001365896.1
p.A1240fs
c.3718_3719fs
1 paper
NM_001365896.1
p.T1242R
c.3725C>G
2 papers
NM_001365896.1
p.T1243P
c.3727A>C
1 paper
NM_001365896.1
p.T1242_T1243delins
c.3726_3727delinsTC
1 paper
NM_001365896.1
p.P1226L
c.3677C>T
1 paper
NM_001365896.1
p.P1221L
c.3662C>T
1 paper
NM_001365896.1
p.P1221S
c.3661C>T
1 paper
NM_001365896.1
p.P1255L
c.3764C>T
1 paper
NM_001365896.1
p.A1256G
c.3767C>G
1 paper
NM_001365896.1
p.P1214H
c.3641C>A
1 paper
NM_001365896.1
p.P1258S
c.3772C>T
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