Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.L512P

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
2 papers
NM_021009.7
p.L512P
c.1535T>C
Surrounding Variants
1 paper
NM_021009.7
p.L512V
c.1534C>G
1 paper
NM_021009.7
p.S513P
c.1537T>C
1 paper
NM_021009.7
p.Y515H
c.1543T>C
1 paper
NM_021009.7
p.N516K
c.1548C>A
4 papers
NM_021009.7
p.K519E
c.1555A>G
1 paper
NM_021009.7
p.Q505*
c.1513C>T
1 paper
NM_021009.7
p.E520*
c.1558G>T
1 paper
NM_021009.7
p.E520K
c.1558G>A
1 paper
NM_021009.7
p.L523Q
c.1568T>A
1 paper
NM_021009.7
p.F501Y
c.1502T>A
1 paper
NM_021009.7
p.I500M
c.1500C>G
1 paper
NM_021009.7
p.I500T
c.1499T>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."