Varaico: Literature-Extracted Genetic Variants

Gene:UBR7

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
1–12 of 37 variants
3 papers
NM_175748.4
p.N124S
c.371A>G
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.S12_V18insFs
c.35_54dup20
1 paper
NM_175748.4
p.S19fs
c.55_56fs
1 paper
NM_175748.4
p.A57T
c.169G>A
1 paper
NM_175748.4
p.A60A
c.180C>T
1 paper
NM_175748.4
p.R95_N96del1
c.285_287delAAA
1 paper
NM_175748.4
p.F97V
c.289T>G
1 paper
NM_175748.4
p.P115delFs
c.343delC
1 paper
NM_175748.4
p.P115fs
c.343_344fs
1 paper
NM_175748.4
p.L133S
c.398T>C
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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."