Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.I30I

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.I30I
c.90C>T
Surrounding Variants
1 paper
NM_021009.7
p.I30M
c.90C>G
1 paper
NM_021009.7
p.Q31*
c.91C>T
3 papers
NM_021009.7
p.I30_Q31insFs
c.90_91ins4
2 papers
NM_021009.7
p.Q31K
c.91C>A
2 papers
NM_021009.7
p.I30V
c.88A>G
1 paper
NM_021009.7
p.Q31R
c.92A>G
1 paper
NM_021009.7
p.K29N
c.87G>T
1 paper
NM_021009.7
p.K29N
c.87G>C
2 papers
NM_021009.7
p.K29K
c.87G>A
3 papers
NM_021009.7
p.D32Y
c.94G>T
1 paper
NM_021009.7
p.D32H
c.94G>C
2 papers
NM_021009.7
p.D32N
c.94G>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."