Varaico: Literature-Extracted Genetic Variants

Gene:UPF3A
Variant:p.V70L

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
3 papers
NM_023011.4
p.V70L
c.208G>C
Surrounding Variants
3 papers
NM_023011.4
p.V70L
c.208G>T
1 paper
NM_023011.4
p.P77delFs
c.231delG
1 paper
NM_023011.4
p.E86K
c.256G>A
1 paper
NM_023011.4
p.L88delFs
c.264delG
1 paper
NM_023011.4
p.L91L
c.271C>T
1 paper
NM_023011.4
p.P92L
c.275C>T
1 paper
NM_023011.4
p.A93T
c.277G>A
2 papers
NM_023011.4
p.H94R
c.281A>G
1 paper
NM_023011.4
p.E98E
c.294G>A
1 paper
NM_023011.4
p.A101S
c.301G>T
4 papers
NM_023011.4
p.R64K
c.191G>A
1 paper
NM_023011.4
p.K63insFs
c.187dupA
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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."