Varaico: Literature-Extracted Genetic Variants

Gene:UPF3A
Variant:p.G169E

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.G169E
c.506G>A
Surrounding Variants
2 papers
NM_023011.4
p.E172K
c.514G>A
1 paper
NM_023011.4
p.E143K
c.427G>A
1 paper
NM_023011.4
p.E176K
c.526G>A
1 paper
NM_023011.4
p.F180S
c.539T>C
1 paper
NM_023011.4
p.T183N
c.548C>A
1 paper
NM_023011.4
p.C185Y
c.554G>A
1 paper
NM_023011.4
p.E187D
c.561G>C
1 paper
NM_023011.4
p.E187D
c.561G>T
1 paper
NM_023011.4
p.A204S
c.610G>T
1 paper
NM_023011.4
p.A204V
c.611C>T
1 paper
NM_023011.4
p.R207*
c.619A>T
1 paper
NM_023011.4
p.Y134C
c.401A>G
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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."