Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.E18V

UBC

4,798 papers

RefSeq Summary

This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending...

Pfam Domains

ubiquitinaa 3–74UCSCUbiquitin family
ubiquitinaa 79–150UCSCUbiquitin family
ubiquitinaa 155–226UCSCUbiquitin family
ubiquitinaa 231–302UCSCUbiquitin family
ubiquitinaa 307–378UCSCUbiquitin family
ubiquitinaa 383–454UCSCUbiquitin family

Gene Aliases

HGNC Name

ubiquitin C

HGNC Alias Name

polyubiquitin-C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
38 papers
NM_021009.7
p.E18V
c.53A>T
Surrounding Variants
1 paper
NM_021009.7
p.E18insFs
c.52_53ins8
1 paper
NM_021009.7
p.E18D
c.54G>T
1 paper
NM_021009.7
p.V17insFs
c.50dupT
1 paper
NM_021009.7
p.E18D
c.54G>C
1 paper
NM_021009.7
p.E16_E18del3
c.46_53del9
1 paper
NM_021009.7
p.V17D
c.50T>A
1 paper
NM_021009.7
p.K6_E16delFs
c.18_48del31
1 paper
NM_021009.7
p.P19R
c.56C>G
1 paper
NM_021009.7
p.P19H
c.56C>A
1 paper
NM_021009.7
p.E16E
c.48G>A
1 paper
NM_021009.7
p.P19delFs
c.56delG
1 paper
NM_021009.7
p.S20N
c.59G>A
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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."