Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.E556K

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.E556K
c.1666G>A
Surrounding Variants
1 paper
NM_021009.7
p.E556*
c.1666G>T
1 paper
NM_021009.7
p.E556A
c.1667A>C
1 paper
NM_021009.7
p.I555L
c.1663A>C
1 paper
NM_021009.7
p.T554N
c.1661C>A
1 paper
NM_021009.7
p.V558A
c.1673T>C
1 paper
NM_021009.7
p.K559R
c.1676A>G
1 paper
NM_021009.7
p.K559insFs
c.1676dupA
1 paper
NM_021009.7
p.A560A
c.1680A>C
3 papers
NM_021009.7
p.K561R
c.1682A>G
1 paper
NM_021009.7
p.E548K
c.1642G>A
1 paper
NM_021009.7
p.K565R
c.1694A>G
1 paper
NM_021009.7
p.T546I
c.1637C>T
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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."