Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.V70E

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
1 paper
NM_021009.7
p.V70E
c.209T>A
Surrounding Variants
1 paper
NM_021009.7
p.V70insFs
c.209_210insG
1 paper
NM_021009.7
p.V70G
c.209T>G
8 papers
NM_021009.7
p.V70A
c.209T>C
1 paper
NM_021009.7
p.V70M
c.208G>A
1 paper
NM_021009.7
p.L71F
c.211C>T
2 papers
NM_021009.7
p.L69P
c.206T>C
1 paper
NM_021009.7
p.L71H
c.212T>A
1 paper
NM_021009.7
p.L71L
c.213C>A
1 paper
NM_021009.7
p.L67_V70del4
c.199_209del12
1 paper
NM_021009.7
p.R72G
c.214C>G
1 paper
NM_021009.7
p.R72S
c.214C>A
2 papers
NM_021009.7
p.R72L
c.215G>T
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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."