Varaico: Literature-Extracted Genetic Variants

Gene:UBE2L3
Variant:p.F57V

UBE2L3

242 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 6–144UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 L3

HGNC Alias Symbol

UBCH7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003347.4
p.F57V
c.169T>G
Surrounding Variants
1 paper
NM_003347.4
p.F57L
c.171T>A
1 paper
NM_003347.4
p.A59G
c.176C>G
1 paper
NM_003347.4
p.E54K
c.160G>A
1 paper
NM_003347.4
p.E60K
c.178G>A
1 paper
NM_003347.4
p.E60A
c.179A>C
1 paper
NM_003347.4
p.I53T
c.158T>C
1 paper
NM_003347.4
p.I53S
c.158T>G
1 paper
NM_003347.4
p.P62A
c.184C>G
1 paper
NM_003347.4
p.F63S
c.188T>C
2 papers
NM_003347.4
p.K64E
c.190A>G
5 papers
NM_003347.4
p.K48R
c.143A>G
1 paper
NM_003347.4
p.I68N
c.203T>A
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