Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.P475S

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.P475S
c.1423C>T
Surrounding Variants
1 paper
NM_021009.7
p.E474K
c.1420G>A
1 paper
NM_021009.7
p.V473E
c.1418T>A
2 papers
NM_021009.7
p.D477N
c.1429G>A
1 paper
NM_021009.7
p.E472D
c.1416A>T
1 paper
NM_021009.7
p.E472D
c.1416A>C
1 paper
NM_021009.7
p.E472K
c.1414G>A
1 paper
NM_021009.7
p.T478A
c.1432A>G
1 paper
NM_021009.7
p.L471P
c.1412T>C
1 paper
NM_021009.7
p.T470T
c.1410T>C
1 paper
NM_021009.7
p.T470A
c.1408A>G
1 paper
NM_021009.7
p.E480D
c.1440G>T
1 paper
NM_021009.7
p.E480D
c.1440G>C
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