Varaico: Literature-Extracted Genetic Variants

Gene:UBE3C
Variant:p.L172L

UBE3C

94 papers

Pfam Domains

HECTaa 778–1083UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

ubiquitin protein ligase E3C

HGNC Alias Symbols

KIAA0010; KIAA10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014671.3
p.L172L
c.516T>G
Surrounding Variants
1 paper
NM_014671.3
p.E173A
c.518A>C
1 paper
NM_014671.3
p.E173D
c.519A>C
1 paper
NM_014671.3
p.E173D
c.519A>T
1 paper
NM_014671.3
p.I203F
c.607A>T
1 paper
NM_014671.3
p.H204Q
c.612C>G
1 paper
NM_014671.3
p.G206Splc
c.616+40T>C
1 paper
NM_014671.3
p.Y212D
c.634T>G
1 paper
NM_014671.3
p.K218insFs
c.653_654ins20
1 paper
NM_014671.3
p.S221_I223delFs
c.661_668del8
1 paper
NM_014671.3
p.S221*
c.662C>A
1 paper
NM_014671.3
p.S221*
c.662C>G
1 paper
NM_014671.3
p.A234E
c.701C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."