Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.H220R

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.H220R
c.659A>G
Surrounding Variants
1 paper
NM_021009.7
p.L221M
c.661C>A
1 paper
NM_021009.7
p.L221Q
c.662T>A
1 paper
NM_021009.7
p.H220delFs
c.660delG
1 paper
NM_021009.7
p.T218delFs
c.654delG
1 paper
NM_021009.7
p.L221L
c.663G>A
1 paper
NM_021009.7
p.L221delFs
c.662_663delCA
1 paper
NM_021009.7
p.T218I
c.653C>T
1 paper
NM_021009.7
p.T218S
c.653C>G
1 paper
NM_021009.7
p.T218S
c.652A>T
2 papers
NM_021009.7
p.T218A
c.652A>G
3 papers
NM_021009.7
p.L223P
c.668T>C
1 paper
NM_021009.7
p.H220_L223delFs
c.659_668del10
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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."