Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.R118K

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.R118K
c.353G>A
Surrounding Variants
1 paper
NM_021009.7
p.R118G
c.352A>G
2 papers
NM_021009.7
p.Q117Q
c.351G>A
1 paper
NM_021009.7
p.L119delFs
c.356delA
1 paper
NM_021009.7
p.Q117*
c.349C>T
5 papers
NM_021009.7
p.Q116H
c.348G>C
1 paper
NM_021009.7
p.I120insFs
c.359dupT
2 papers
NM_021009.7
p.Q116K
c.346C>A
1 paper
NM_021009.7
p.F121Y
c.362T>A
1 paper
NM_021009.7
p.F121_A122ins1
c.363_364insACA
1 paper
NM_021009.7
p.D115N
c.343G>A
1 paper
NM_021009.7
p.P114fs
c.340_341fs
2 papers
NM_021009.7
p.A122P
c.364G>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."