Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.R194_L195insFs

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.R194_L195insFs
c.582_583insTA
Surrounding Variants
1 paper
NM_021009.7
p.R194M
c.581G>T
1 paper
NM_021009.7
p.L195*
c.584T>A
1 paper
NM_021009.7
p.L195F
c.585G>C
1 paper
NM_021009.7
p.I196V
c.586A>G
1 paper
NM_021009.7
p.Q193P
c.578A>C
1 paper
NM_021009.7
p.I196_F197ins15
c.586_590ins45
1 paper
NM_021009.7
p.Q192Q
c.576G>A
3 papers
NM_021009.7
p.Q192R
c.575A>G
1 paper
NM_021009.7
p.I196delFs
c.587_588delGA
1 paper
NM_021009.7
p.Q192K
c.574C>A
1 paper
NM_021009.7
p.D191E
c.573T>A
2 papers
NM_021009.7
p.D191H
c.571G>C
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