Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.L295Q

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.L295Q
c.884T>A
Surrounding Variants
2 papers
NM_021009.7
p.H296R
c.887A>G
1 paper
NM_021009.7
p.T294S
c.880A>T
1 paper
NM_021009.7
p.S293_T294Fs
c.879_880delinsAFs
2 papers
NM_021009.7
p.L297L
c.889C>T
1 paper
NM_021009.7
p.V298G
c.893T>G
1 paper
NM_021009.7
p.E292insFs
c.874_875insA
1 paper
NM_021009.7
p.E292K
c.874G>A
1 paper
NM_021009.7
p.K291I
c.872A>T
1 paper
NM_021009.7
p.K291R
c.872A>G
1 paper
NM_021009.7
p.I289_Q290del2
c.865_869del6
1 paper
NM_021009.7
p.L299_R300insFs
c.897_898insA
1 paper
NM_021009.7
p.Q290*
c.868C>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."