Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.D488A

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.D488A
c.1463A>C
Surrounding Variants
1 paper
NM_021009.7
p.D488V
c.1463A>T
1 paper
NM_021009.7
p.Q487Q
c.1461A>G
1 paper
NM_021009.7
p.Q487*
c.1459C>T
1 paper
NM_021009.7
p.K489_E490delins
c.1467_1468delinsAT
1 paper
NM_021009.7
p.G491R
c.1471G>C
1 paper
NM_021009.7
p.G491insFs
c.1472_1473insA
1 paper
NM_021009.7
p.K485M
c.1454A>T
1 paper
NM_021009.7
p.I492T
c.1475T>C
1 paper
NM_021009.7
p.A484T
c.1450G>A
4 papers
NM_021009.7
p.P493S
c.1477C>T
2 papers
NM_021009.7
p.K483M
c.1448A>T
2 papers
NM_021009.7
p.P494L
c.1481C>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."