Varaico: Literature-Extracted Genetic Variants

Gene:UPF3A
Variant:p.K63insFs

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.K63insFs
c.187dupA
Surrounding Variants
4 papers
NM_023011.4
p.R64K
c.191G>A
1 paper
NM_023011.4
p.R60H
c.179G>A
1 paper
NM_023011.4
p.P59L
c.176C>T
1 paper
NM_023011.4
p.G57D
c.170G>A
1 paper
NM_023011.4
p.A56V
c.167C>T
1 paper
NM_023011.4
p.G55C
c.163G>T
1 paper
NM_023011.4
p.T47P
c.139A>C
1 paper
NM_023011.4
p.E43Q
c.127G>C
1 paper
NM_023011.4
p.Q39*
c.115C>T
1 paper
NM_023011.4
p.D36D
c.108C>T
1 paper
NM_023011.4
p.Q32*
c.94C>T
1 paper
NM_023011.4
p.A28V
c.83C>T
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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."