Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.G542C

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.G542C
c.1624G>T
Surrounding Variants
1 paper
NM_021009.7
p.I545T
c.1634T>C
1 paper
NM_021009.7
p.K538R
c.1613A>G
1 paper
NM_021009.7
p.T546I
c.1637C>T
1 paper
NM_021009.7
p.V537L
c.1609G>T
1 paper
NM_021009.7
p.E548K
c.1642G>A
1 paper
NM_021009.7
p.I535V
c.1603A>G
1 paper
NM_021009.7
p.R530insFs
c.1588_1589insC
1 paper
NM_021009.7
p.T554N
c.1661C>A
1 paper
NM_021009.7
p.I555L
c.1663A>C
1 paper
NM_021009.7
p.E556*
c.1666G>T
1 paper
NM_021009.7
p.E556K
c.1666G>A
1 paper
NM_021009.7
p.E556A
c.1667A>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."