Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.K48R

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
58 papers
NM_021009.7
p.K48R
c.143A>G
Surrounding Variants
3 papers
NM_021009.7
p.K48I
c.143A>T
1 paper
NM_021009.7
p.K48N
c.144A>T
2 papers
NM_021009.7
p.K48E
c.142A>G
1 paper
NM_021009.7
p.Q49E
c.145C>G
1 paper
NM_021009.7
p.A46_K48del0
c.136_144del9
1 paper
NM_021009.7
p.G47V
c.140G>T
1 paper
NM_021009.7
p.G47A
c.140G>C
1 paper
NM_021009.7
p.E34_G47delFs
c.102_139del38
1 paper
NM_021009.7
p.Q49L
c.146A>T
1 paper
NM_021009.7
p.A46A
c.138T>C
1 paper
NM_021009.7
p.A46A
c.138T>A
1 paper
NM_021009.7
p.L50V
c.148C>G
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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."