Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.H448Y

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.H448Y
c.1342C>T
Surrounding Variants
1 paper
NM_021009.7
p.Q442_T446del5
c.1324_1337del15
1 paper
NM_021009.7
p.L447V
c.1339C>G
1 paper
NM_021009.7
p.L449M
c.1345C>A
1 paper
NM_021009.7
p.T446_H448delFs
c.1337_1344del8
1 paper
NM_021009.7
p.L447_H448del2
c.1339_1343del6
1 paper
NM_021009.7
p.L451delFs
c.1351delG
1 paper
NM_021009.7
p.E444E
c.1332G>A
2 papers
NM_021009.7
p.R452C
c.1354C>T
1 paper
NM_021009.7
p.R452_L453insFs
c.1356_1357ins4
1 paper
NM_021009.7
p.R452delFs
c.1355delC
1 paper
NM_021009.7
p.L453P
c.1358T>C
1 paper
NM_021009.7
p.L453_R454insFs
c.1359_1360insA
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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."