Varaico: Literature-Extracted Genetic Variants

Gene:UPF3A
Variant:p.Q229R

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.Q229R
c.686A>G
Surrounding Variants
1 paper
NM_023011.4
p.L226*
c.677T>A
1 paper
NM_023011.4
p.L226*
c.677T>G
1 paper
NM_023011.4
p.K225_L226delFs
c.674_677del4
1 paper
NM_023011.4
p.L217I
c.649C>A
1 paper
NM_023011.4
p.I231delFs
c.691delA
1 paper
NM_023011.4
p.I231del1
c.691_692delATT
1 paper
NM_023011.4
p.R232*
c.694C>T
1 paper
NM_023011.4
p.R232Q
c.695G>A
1 paper
NM_023011.4
p.E234G
c.701A>G
2 papers
NM_023011.4
p.R236Q
c.707G>A
1 paper
NM_023011.4
p.E243Q
c.727G>C
1 paper
NM_023011.4
p.K254del1
c.760_761delAAA
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