Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.C535S

UBE3B

126 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

HECTaa 736–1068UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

ubiquitin protein ligase E3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130466.4
p.C535S
c.1604G>C
Surrounding Variants
1 paper
NM_130466.4
p.C535S
c.1603T>A
1 paper
NM_130466.4
p.R537Q
c.1610G>A
1 paper
NM_130466.4
p.C533fs
c.1597_1598fs
1 paper
NM_130466.4
p.C533delFs
c.1597_1598delTG
1 paper
NM_130466.4
p.L539H
c.1616T>A
6 papers
NM_130466.4
p.L539P
c.1616T>C
1 paper
NM_130466.4
p.L529V
c.1585C>G
2 papers
NM_130466.4
p.T541Splc
c.1622+1G>C
1 paper
NM_130466.4
p.G484fs
c.1450_1451fs
1 paper
NM_130466.4
p.L543insFs
c.1629dupT
1 paper
NM_130466.4
p.D544H
c.1630G>C
1 paper
NM_130466.4
p.V548I
c.1642G>A
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