Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.E246A

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.E246A
c.737A>C
Surrounding Variants
2 papers
NM_021009.7
p.E246D
c.738G>T
2 papers
NM_021009.7
p.E246D
c.738G>C
1 paper
NM_021009.7
p.P247A
c.739C>G
3 papers
NM_021009.7
p.V245A
c.734T>C
1 paper
NM_021009.7
p.E244D
c.732G>T
1 paper
NM_021009.7
p.E244D
c.732G>C
2 papers
NM_021009.7
p.E244G
c.731A>G
1 paper
NM_021009.7
p.L243V
c.727C>G
1 paper
NM_021009.7
p.L243_E244insA
c.727_731ins3
1 paper
NM_021009.7
p.D249delins
c.746_747delinsTA
1 paper
NM_021009.7
p.T242T
c.726C>G
3 papers
NM_021009.7
p.T242N
c.725C>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."