Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.V613M

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.V613M
c.1837G>A
Surrounding Variants
1 paper
NM_021009.7
p.V613G
c.1838T>G
1 paper
NM_021009.7
p.K614R
c.1841A>G
1 paper
NM_021009.7
p.T617P
c.1849A>C
1 paper
NM_021009.7
p.G618D
c.1853G>A
1 paper
NM_021009.7
p.L605P
c.1814T>C
1 paper
NM_021009.7
p.L605F
c.1813C>T
1 paper
NM_021009.7
p.V602L
c.1804G>T
1 paper
NM_021009.7
p.E624K
c.1870G>A
1 paper
NM_021009.7
p.L601V
c.1801C>G
1 paper
NM_021009.7
p.H600L
c.1799A>T
1 paper
NM_021009.7
p.H600R
c.1799A>G
1 paper
NM_021009.7
p.V625delFs
c.1875delC
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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."