Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.I251_E252del1

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.I251_E252del1
c.752_754delCGA
Surrounding Variants
2 papers
NM_021009.7
p.E252A
c.755A>C
2 papers
NM_021009.7
p.E252Q
c.754G>C
2 papers
NM_021009.7
p.E252K
c.754G>A
1 paper
NM_021009.7
p.I251T
c.752T>C
1 paper
NM_021009.7
p.V254D
c.761T>A
1 paper
NM_021009.7
p.D249delins
c.746_747delinsTA
1 paper
NM_021009.7
p.K255insFs
c.764dupA
2 papers
NM_021009.7
p.K257R
c.770A>G
9 papers
NM_021009.7
p.K257T
c.770A>C
1 paper
NM_021009.7
p.K257K
c.771G>A
1 paper
NM_021009.7
p.P247A
c.739C>G
2 papers
NM_021009.7
p.E246D
c.738G>T
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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."