Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.G683R

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.G683R
c.2047G>A
Surrounding Variants
1 paper
NM_021009.7
p.G683R
c.2047G>C
1 paper
NM_021009.7
p.G683E
c.2048G>A
1 paper
NM_021009.7
p.R682K
c.2045G>A
1 paper
NM_021009.7
p.R682W
c.2044A>T
1 paper
NM_021009.7
p.V678_L681del4
c.2032_2042del12
2 papers
NM_021009.7
p.G684V
c.2051G>T
1 paper
NM_021009.7
p.G684insFs
c.2051dupG
1 paper
NM_021009.7
p.V685fs
c.2053_2054fs
2 papers
NM_021009.7
p.R680H
c.2039G>A
1 paper
NM_021009.7
p.V678_L679Fs
c.2034_2035delinsAFs
1 paper
NM_021009.7
p.L677M
c.2029T>A
1 paper
NM_021009.7
p.I669N
c.2006T>A
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