Varaico: Literature-Extracted Genetic Variants

Gene:NACA
Variant:p.K1648R

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.K1648R
c.4943A>G
Surrounding Variants
1 paper
NM_001365896.1
p.P1654S
c.4960C>T
1 paper
NM_001365896.1
p.P1637S
c.4909C>T
1 paper
NM_001365896.1
p.P1666L
c.4997C>T
1 paper
NM_001365896.1
p.G1627A
c.4880G>C
1 paper
NM_001365896.1
p.P1673fs
c.5017_5018fs
1 paper
NM_001365896.1
p.P1673delFs
c.5018delG
1 paper
NM_001365896.1
p.K1682R
c.5045A>G
1 paper
NM_001365896.1
p.A1604V
c.4811C>T
1 paper
NM_001365896.1
p.P1596S
c.4786C>T
1 paper
NM_001365896.1
p.K1559_K1560insT
c.4675_4679ins3
1 paper
NM_001365896.1
p.Q1742E
c.5224C>G
1 paper
NM_001365896.1
p.P1551S
c.4651C>T
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