Varaico: Literature-Extracted Genetic Variants

Gene:UBR7
Variant:p.E151D

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.E151D
c.453G>C
Surrounding Variants
1 paper
NM_175748.4
p.E151D
c.453G>T
1 paper
NM_175748.4
p.E151A
c.452A>C
1 paper
NM_175748.4
p.R165M
c.494G>T
1 paper
NM_175748.4
p.E145K
c.433G>A
1 paper
NM_175748.4
p.L133S
c.398T>C
3 papers
NM_175748.4
p.N124S
c.371A>G
1 paper
NM_175748.4
p.E207*
c.619G>T
1 paper
NM_175748.4
p.G217fs
c.649_650fs
1 paper
NM_175748.4
p.R249W
c.745C>T
1 paper
NM_175748.4
p.G262S
c.784G>A
1 paper
NM_175748.4
p.P115fs
c.343_344fs
1 paper
NM_175748.4
p.P115delFs
c.343delC
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