Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.D134N

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
3 papers
NM_021009.7
p.D134N
c.400G>A
Surrounding Variants
1 paper
NM_021009.7
p.S133insFs
c.399dupT
2 papers
NM_021009.7
p.D134A
c.401A>C
1 paper
NM_021009.7
p.S133F
c.398C>T
1 paper
NM_021009.7
p.Y135S
c.404A>C
2 papers
NM_021009.7
p.Y135*
c.405C>A
2 papers
NM_021009.7
p.N136S
c.407A>G
1 paper
NM_021009.7
p.I137F
c.409A>T
1 paper
NM_021009.7
p.Y135_N136del2
c.403_407del6
1 paper
NM_021009.7
p.Y135_I137delFs
c.405_409del5
1 paper
NM_021009.7
p.R130C
c.388C>T
1 paper
NM_021009.7
p.Q138insFs
c.412_413insT
1 paper
NM_021009.7
p.I137insFs
c.411dupC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."