Varaico: Literature-Extracted Genetic Variants

Gene:UBR7
Variant:p.G262S

UBR7

37 papers

RefSeq Summary

This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein re...

Pfam Domains

zf-UBRaa 45–114UCSCPutative zinc finger in N-recognin (UBR box)

Gene Aliases

HGNC Name

ubiquitin protein ligase E3 component n-recognin 7

HGNC Previous Symbol

C14orf130

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175748.4
p.G262S
c.784G>A
Surrounding Variants
1 paper
NM_175748.4
p.R249W
c.745C>T
1 paper
NM_175748.4
p.G217fs
c.649_650fs
1 paper
NM_175748.4
p.E207*
c.619G>T
1 paper
NM_175748.4
p.G285_K287del3
c.853_860del9
1 paper
NM_175748.4
p.G285C
c.853G>T
1 paper
NM_175748.4
p.L288P
c.863T>C
2 papers
NM_175748.4
p.Q289E
c.865C>G
2 papers
NM_175748.4
p.A293D
c.878C>A
1 paper
NM_175748.4
p.K298N
c.894G>C
1 paper
NM_175748.4
p.K298N
c.894G>T
1 paper
NM_175748.4
p.D300delFs
c.900delC
1 paper
NM_175748.4
p.R310H
c.929G>A
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."