Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.P342L

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.P342L
c.1025C>T
Surrounding Variants
1 paper
NM_021009.7
p.I340_P341delFs
c.1020_1023del4
1 paper
NM_021009.7
p.P342A
c.1024C>G
1 paper
NM_021009.7
p.G339_P341delFs
c.1017_1021del5
1 paper
NM_021009.7
p.D343N
c.1027G>A
1 paper
NM_021009.7
p.D343G
c.1028A>G
1 paper
NM_021009.7
p.D343D
c.1029C>T
1 paper
NM_021009.7
p.P341S
c.1021C>T
2 papers
NM_021009.7
p.I340I
c.1020C>T
1 paper
NM_021009.7
p.I340N
c.1019T>A
1 paper
NM_021009.7
p.Q344delFs
c.1030delG
1 paper
NM_021009.7
p.Q344Q
c.1032G>A
1 paper
NM_021009.7
p.I340F
c.1018A>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."