Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.L377R

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.L377R
c.1130T>G
Surrounding Variants
1 paper
NM_021009.7
p.L377H
c.1130T>A
3 papers
NM_021009.7
p.L377F
c.1129C>T
1 paper
NM_021009.7
p.R376_L377delFs
c.1127_1131del5
1 paper
NM_021009.7
p.R376delFs
c.1126delG
2 papers
NM_021009.7
p.R376C
c.1126C>T
1 paper
NM_021009.7
p.G379D
c.1136G>A
1 paper
NM_021009.7
p.G379G
c.1137T>G
4 papers
NM_021009.7
p.G380R
c.1138G>C
2 papers
NM_021009.7
p.G380R
c.1138G>A
1 paper
NM_021009.7
p.Q382K
c.1144C>A
1 paper
NM_021009.7
p.G380_M381delFs
c.1140_1143del4
1 paper
NM_021009.7
p.H372Y
c.1114C>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."