Varaico: Literature-Extracted Genetic Variants

Gene:UBE2M
Variant:p.Y100*

UBE2M

38 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

UQ_conaa 33–168UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 M

HGNC Alias Symbols

hUbc12; UBC12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003969.4
p.Y100*
c.300T>G
Surrounding Variants
1 paper
NM_003969.4
p.Y100insFs
c.298dupT
1 paper
NM_003969.4
p.Y100fs
c.298_299fs
1 paper
NM_003969.4
p.K94M
c.281A>T
1 paper
NM_003969.4
p.G108_N109ins12
c.322_326ins36
12 papers
NM_003969.4
p.C111S
c.331T>A
12 papers
NM_003969.4
p.C111S
c.332G>C
1 paper
NM_003969.4
p.H101_L112del12
c.301_335del36
1 paper
NM_003969.4
p.R116fs
c.346_347fs
1 paper
NM_003969.4
p.P66P
c.198T>A
1 paper
NM_003969.4
p.P66T
c.196C>A
1 paper
NM_003969.4
p.C65W
c.195T>G
1 paper
NM_003969.4
p.C65S
c.193T>A
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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."