Varaico: Literature-Extracted Genetic Variants

Gene:UPF3A
Variant:p.R255G

UPF3A

95 papers

RefSeq Summary

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to ye...

Pfam Domains

Smg4_UPF3aa 65–226UCSCSmg-4/UPF3 family

Gene Aliases

HGNC Name

UPF3A regulator of nonsense mediated mRNA decay

HGNC Alias Symbols

RENT3A; UPF3; HUPF3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023011.4
p.R255G
c.763A>G
Surrounding Variants
2 papers
NM_023011.4
p.R255K
c.764G>A
1 paper
NM_023011.4
p.R258del1
c.772_773delAGA
1 paper
NM_023011.4
p.K254del1
c.760_761delAAA
1 paper
NM_023011.4
p.C263Y
c.788G>A
1 paper
NM_023011.4
p.C263*
c.789C>A
1 paper
NM_001353644.2
p.K63insFs
c.187dupA
3 papers
NM_023011.4
p.K266delFs
c.798delA
1 paper
NM_023011.4
p.K264del1
c.790_791delAAA
2 papers
NM_023011.4
p.K264fs
c.790_791fs
1 paper
NM_023011.4
p.E243Q
c.727G>C
2 papers
NM_023011.4
p.E267fs
c.799_800fs
3 papers
NM_001353644.2
p.E66fs
c.196_197fs
NM_023011.4
p.E267fs
c.799_800fs
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