Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.G228E

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.G228E
c.683G>A
Surrounding Variants
1 paper
NM_021009.7
p.G228W
c.682G>T
1 paper
NM_021009.7
p.R226_G227delFs
c.678_681del4
1 paper
NM_021009.7
p.M229L
c.685A>T
1 paper
NM_021009.7
p.G227D
c.680G>A
1 paper
NM_021009.7
p.Q230*
c.688C>T
1 paper
NM_021009.7
p.G228_M229del2
c.682_686del6
1 paper
NM_021009.7
p.Q230Q
c.690A>G
1 paper
NM_021009.7
p.R226G
c.676A>G
1 paper
NM_021009.7
p.Q230_I231insFs
c.690_691insC
1 paper
NM_021009.7
p.L225insFs
c.674dupT
1 paper
NM_021009.7
p.I231M
c.693C>G
1 paper
NM_021009.7
p.I231I
c.693C>A
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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."