Varaico: Literature-Extracted Genetic Variants

Gene:UBE2H
Variant:p.D100V

UBE2H

33 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 1–75UCSCUbiquitin-conjugating enzyme
UQ_conaa 9–145UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 H

HGNC Alias Symbols

UBCH; UBC8; GID3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003344.4
p.D100V
c.299A>T
Surrounding Variants
1 paper
NM_003344.4
p.L112L
c.336A>G
2 papers
NM_003344.4
p.D120V
c.359A>T
1 paper
NM_003344.4
p.T150M
c.449C>T
1 paper
NM_003344.4
p.S165A
c.493T>G
1 paper
NM_003344.4
p.S166A
c.496T>G
1 paper
NM_003344.4
p.E167E
c.501G>A
1 paper
NM_003344.4
p.S169A
c.505T>G
1 paper
NM_003344.4
p.S171A
c.511T>G
1 paper
NM_003344.4
p.S174A
c.520T>G
1 paper
NM_003344.4
p.E175K
c.523G>A
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