Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.E307_N308delFs

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.E307_N308delFs
c.921_922delTC
Surrounding Variants
3 papers
NM_080632.3
p.L295M
c.883T>A
1 paper
NM_080632.3
p.R324S
c.970C>A
6 papers
NM_080632.3
p.G290fs
c.868_869fs
6 papers
NM_080632.3
p.K289_G290delFs
c.867_868delCT
1 paper
NM_080632.3
p.G290fs
c.868_869fs
1 paper
NM_080632.3
p.L283fs
c.847_848fs
1 paper
NM_080632.3
p.R354*
c.1060C>T
2 papers
NM_080632.3
p.R358C
c.1072C>T
1 paper
NM_080632.3
p.R358H
c.1073G>A
3 papers
NM_080632.3
p.R361*
c.1081C>T
1 paper
NM_080632.3
p.R361Q
c.1082G>A
2 papers
NM_080632.3
p.E364fs
c.1090_1091fs
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