Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.M305I

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.M305I
c.915G>T
Surrounding Variants
1 paper
NM_021009.7
p.M305I
c.915G>C
1 paper
NM_021009.7
p.M305I
c.915G>A
2 papers
NM_021009.7
p.Q306*
c.916C>T
1 paper
NM_021009.7
p.M305L
c.913A>T
1 paper
NM_021009.7
p.M305L
c.913A>C
2 papers
NM_021009.7
p.G304delFs
c.912delC
3 papers
NM_021009.7
p.G304E
c.911G>A
1 paper
NM_021009.7
p.I307N
c.920T>A
1 paper
NM_021009.7
p.G304fs
c.910_911fs
1 paper
NM_021009.7
p.I307delFs
c.921delG
4 papers
NM_021009.7
p.G303V
c.908G>T
1 paper
NM_021009.7
p.G303D
c.908G>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."