Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.A350V

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.A350V
c.1049C>T
Surrounding Variants
1 paper
NM_021009.7
p.A350S
c.1048G>T
1 paper
NM_021009.7
p.L347_F349delFs
c.1039_1046del8
1 paper
NM_021009.7
p.Q345_F349del0
c.1035_1046del12
1 paper
NM_021009.7
p.G351R
c.1051G>C
1 paper
NM_021009.7
p.G351R
c.1051G>A
1 paper
NM_021009.7
p.F349Y
c.1046T>A
1 paper
NM_021009.7
p.I348_F349delFs
c.1044_1045delAG
1 paper
NM_021009.7
p.G351V
c.1052G>T
2 papers
NM_021009.7
p.G351A
c.1052G>C
1 paper
NM_021009.7
p.I348T
c.1043T>C
2 papers
NM_021009.7
p.K352R
c.1055A>G
1 paper
NM_021009.7
p.Q345_G351delFs
c.1034_1053del20
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