Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.V349delFs

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.V349delFs
c.1047delG
Surrounding Variants
7 papers
NM_130466.4
p.R346Q
c.1037G>A
3 papers
NM_130466.4
p.R346R
c.1036C>A
1 paper
NM_130466.4
p.R346_S354del9
c.1036_1061del27
1 paper
NM_130466.4
p.W359*
c.1076G>A
1 paper
NM_130466.4
p.W359*
c.1077G>A
1 paper
NM_130466.4
p.G333V
c.998G>T
1 paper
NM_130466.4
p.Y372C
c.1115A>G
1 paper
NM_130466.4
p.L322I
c.964C>A
1 paper
NM_130466.4
p.G314Splc
c.941-1G>A
1 paper
NM_130466.4
p.R296*
c.886C>T
1 paper
NM_130466.4
p.I289M
c.867A>G
1 paper
NM_130466.4
p.D282del1
c.844_845delGAC
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