Varaico: Literature-Extracted Genetic Variants

Gene:UBE2H

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
1–12 of 23 variants
2 papers
NM_003344.4
p.V90A
c.269T>C
2 papers
NM_003344.4
p.D120V
c.359A>T
1 paper
NM_003344.4
p.M1I
c.3G>T
1 paper
NM_003344.4
p.M1I
c.3G>C
1 paper
NM_003344.4
p.M1I
c.3G>A
1 paper
NM_003344.4
p.E24V
c.71A>T
1 paper
NM_003344.4
p.T26T
c.78G>A
1 paper
NM_003344.4
p.K64E
c.190A>G
1 paper
NM_003344.4
p.F75delins
c.224_225delinsGC
1 paper
NM_003344.4
p.S83L
c.248C>T
1 paper
NM_003344.4
p.C87S
c.259T>A
1 paper
NM_003344.4
p.C87S
c.260G>C
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