Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.E581Splc

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
2 papers
NM_130466.4
p.E581Splc
c.1741+2T>C
Surrounding Variants
1 paper
NM_130466.4
p.S565del1
c.1693_1694delTCT
2 papers
NM_130466.4
p.S564_S565del1
c.1692_1694delCTC
1 paper
NM_130466.4
p.I563_S564del2
c.1687_1691del6
1 paper
NM_130466.4
p.V548I
c.1642G>A
1 paper
NM_130466.4
p.D544H
c.1630G>C
1 paper
NM_130466.4
p.L543insFs
c.1629dupT
1 paper
NM_130466.4
p.E581Splc
c.1742-2A>G
2 papers
NM_130466.4
p.F591fs
c.1771_1772fs
2 papers
NM_130466.4
p.F591delFs
c.1773delC
1 paper
NM_130466.4
p.V600A
c.1799T>C
1 paper
NM_130466.4
p.Y602Y
c.1806C>T
1 paper
NM_130466.4
p.E603K
c.1807G>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."