Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.R54delFs

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.R54delFs
c.161delC
Surrounding Variants
1 paper
NM_021009.7
p.R54L
c.161G>T
5 papers
NM_021009.7
p.T55A
c.163A>G
3 papers
NM_021009.7
p.R54C
c.160C>T
2 papers
NM_021009.7
p.T55I
c.164C>T
1 paper
NM_021009.7
p.T55S
c.164C>G
2 papers
NM_021009.7
p.R54S
c.160C>A
1 paper
NM_021009.7
p.T55delFs
c.163delT
1 paper
NM_021009.7
p.R54_T55del1
c.161_163delTGC
1 paper
NM_021009.7
p.G53E
c.158G>A
1 paper
NM_021009.7
p.L56V
c.166C>G
1 paper
NM_021009.7
p.D52delFs
c.155delT
1 paper
NM_021009.7
p.L56L
c.168G>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."