Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.R42insFs

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.R42insFs
c.125dupG
Surrounding Variants
1 paper
NM_021009.7
p.L43V
c.127C>G
1 paper
NM_021009.7
p.L43M
c.127C>A
2 papers
NM_021009.7
p.L43Q
c.128T>A
1 paper
NM_021009.7
p.R42R
c.126G>A
1 paper
NM_021009.7
p.R42K
c.125G>A
1 paper
NM_021009.7
p.I44F
c.130A>T
1 paper
NM_021009.7
p.R42W
c.124A>T
1 paper
NM_021009.7
p.I44V
c.130A>G
1 paper
NM_021009.7
p.R42G
c.124A>G
1 paper
NM_021009.7
p.Q41Q
c.123G>A
1 paper
NM_021009.7
p.I44I
c.132C>A
1 paper
NM_021009.7
p.Q41R
c.122A>G
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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."