Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.I383V

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
4 papers
NM_021009.7
p.I383V
c.1147A>G
Surrounding Variants
1 paper
NM_021009.7
p.I383I
c.1149C>A
1 paper
NM_021009.7
p.Q382K
c.1144C>A
1 paper
NM_021009.7
p.G380_M381delFs
c.1140_1143del4
4 papers
NM_021009.7
p.G380R
c.1138G>C
2 papers
NM_021009.7
p.G380R
c.1138G>A
1 paper
NM_021009.7
p.K386E
c.1156A>G
1 paper
NM_021009.7
p.G379G
c.1137T>G
1 paper
NM_021009.7
p.K386K
c.1158G>A
1 paper
NM_021009.7
p.G379D
c.1136G>A
1 paper
NM_021009.7
p.R376_L377delFs
c.1127_1131del5
1 paper
NM_021009.7
p.T387_L388insFs
c.1159_1162dup4
1 paper
NM_021009.7
p.G380_L388delFs
c.1140_1162del23
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