Varaico: Literature-Extracted Genetic Variants

Gene:UPF3B
Variant:p.R388fs

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.R388fs
c.1162_1163fs
Surrounding Variants
1 paper
NM_080632.3
p.E390*
c.1168G>T
3 papers
NM_080632.3
p.R388_K389delFs
c.1164_1167del4
1 paper
NM_080632.3
p.K387T
c.1160A>C
1 paper
NM_080632.3
p.E390fs
c.1168_1169fs
1 paper
NM_080632.3
p.F386delFs
c.1157_1158delAA
4 papers
NM_080632.3
p.R379H
c.1136G>A
2 papers
NM_080632.3
p.R379C
c.1135C>T
1 paper
NM_080632.3
p.R401W
c.1201C>T
3 papers
NM_080632.3
p.R374H
c.1121G>A
1 paper
NM_023010.4
p.R361C
c.1081C>T
1 paper
NM_080632.3
p.R373H
c.1118G>A
2 papers
NM_080632.3
p.R373C
c.1117C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."