Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.T198A

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.T198A
c.592A>G
Surrounding Variants
1 paper
NM_080632.3
p.T198fs
c.592_593fs
1 paper
NM_080632.3
p.T197A
c.589A>G
1 paper
NM_080632.3
p.K207*
c.619A>T
1 paper
NM_080632.3
p.N206_K207delFs
c.617_620del4
1 paper
NM_080632.3
p.Q208Q
c.624G>A
1 paper
NM_080632.3
p.K214K
c.642G>A
1 paper
NM_080632.3
p.I223V
c.667A>G
1 paper
NM_080632.3
p.E224D
c.672A>T
1 paper
NM_080632.3
p.E224D
c.672A>C
2 papers
NM_080632.3
p.R225fs
c.673_674fs
5 papers
NM_080632.3
p.R225fs
c.673_674fs
4 papers
NM_080632.3
p.R225_K226delFs
c.674_677del4
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