Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.I289I

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.I289I
c.867C>A
Surrounding Variants
2 papers
NM_021009.7
p.I289I
c.867C>T
1 paper
NM_021009.7
p.Q290*
c.868C>T
1 paper
NM_021009.7
p.I289V
c.865A>G
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.E292insFs
c.874_875insA
1 paper
NM_021009.7
p.E292K
c.874G>A
1 paper
NM_021009.7
p.D286insFs
c.858dupC
1 paper
NM_021009.7
p.D286G
c.857A>G
2 papers
NM_021009.7
p.D286A
c.857A>C
3 papers
NM_021009.7
p.D286delFs
c.856delC
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