Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.E364_R365delFs

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
4 papers
NM_080632.3
p.E364_R365delFs
c.1091_1094del4
Surrounding Variants
1 paper
NM_080632.3
p.R365delFs
c.1093_1094delCT
1 paper
NM_080632.3
p.L366L
c.1096C>T
2 papers
NM_080632.3
p.E364fs
c.1090_1091fs
2 papers
NM_080632.3
p.K367N
c.1101G>T
3 papers
NM_080632.3
p.K367N
c.1101G>C
5 papers
NM_080632.3
p.R368Q
c.1103G>A
1 paper
NM_080632.3
p.R361Q
c.1082G>A
3 papers
NM_080632.3
p.R361*
c.1081C>T
1 paper
NM_080632.3
p.R358H
c.1073G>A
2 papers
NM_080632.3
p.R373C
c.1117C>T
1 paper
NM_080632.3
p.R373H
c.1118G>A
2 papers
NM_080632.3
p.R358C
c.1072C>T
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