Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.L319P

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.L319P
c.956T>C
Surrounding Variants
1 paper
NM_021009.7
p.T318T
c.954T>C
1 paper
NM_021009.7
p.K315_T318delFs
c.944_953del10
1 paper
NM_021009.7
p.E320*
c.958G>T
1 paper
NM_021009.7
p.T318I
c.953C>T
1 paper
NM_021009.7
p.T318A
c.952A>G
1 paper
NM_021009.7
p.I317T
c.950T>C
1 paper
NM_021009.7
p.I317V
c.949A>G
1 paper
NM_021009.7
p.K315_T316delFs
c.945_948del4
2 papers
NM_021009.7
p.E322K
c.964G>A
1 paper
NM_021009.7
p.E322V
c.965A>T
1 paper
NM_021009.7
p.T316A
c.946A>G
3 papers
NM_021009.7
p.K315T
c.944A>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."