Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.L181L

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.L181L
c.541C>T
Surrounding Variants
1 paper
NM_080632.3
p.E183V
c.548A>T
1 paper
NM_080632.3
p.M174V
c.520A>G
1 paper
NM_080632.3
p.T169A
c.505A>G
1 paper
NM_080632.3
p.Y167D
c.499T>G
1 paper
NM_080632.3
p.Y160F
c.479A>T
12 papers
NM_080632.3
p.Y160D
c.478T>G
1 paper
NM_080632.3
p.D157G
c.470A>G
1 paper
NM_080632.3
p.T197A
c.589A>G
1 paper
NM_080632.3
p.T198fs
c.592_593fs
1 paper
NM_080632.3
p.T198A
c.592A>G
1 paper
NM_080632.3
p.K207*
c.619A>T
1 paper
NM_080632.3
p.N206_K207delFs
c.617_620del4
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