Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.V53_V54Fs

UPF3B

90 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 48–209UCSCSmg-4/UPF3 family

Gene Aliases

HGNC Name

UPF3B regulator of nonsense mediated mRNA decay

HGNC Previous Symbols

MRX62; UPF3BP1; UPF3BP2; UPF3BP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080632.3
p.V53_V54Fs
c.159_160delinsTACFs
Surrounding Variants
1 paper
NM_080632.3
p.V54Fs
c.160delinsACFs
1 paper
NM_080632.3
p.V54insFs
c.161dupT
1 paper
NM_080632.3
p.V54fs
c.160_161fs
1 paper
NM_080632.3
p.R56*
c.166C>T
3 papers
NM_080632.3
p.P59insFs
c.177dupT
1 paper
NM_080632.3
p.P60L
c.179C>T
2 papers
NM_080632.3
p.P60fs
c.178_179fs
1 paper
NM_080632.3
p.T61fs
c.181_182fs
1 paper
NM_080632.3
p.P59Fs
c.177delinsTCFs
1 paper
NM_080632.3
p.E65G
c.194A>G
1 paper
NM_080632.3
p.E65D
c.195G>T
1 paper
NM_080632.3
p.E65D
c.195G>C
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