Varaico: Literature-Extracted Genetic Variants

Gene:UBE3C
Variant:p.L612F

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.L612F
c.1836G>C
Surrounding Variants
1 paper
NM_014671.3
p.L612F
c.1836G>T
1 paper
NM_014671.3
p.K603_V604Splc
c.1810-35C>G
1 paper
NM_014671.3
p.Q641R
c.1922A>G
1 paper
NM_014671.3
p.R655P
c.1964G>C
1 paper
NM_014671.3
p.M656L
c.1966A>C
1 paper
NM_014671.3
p.M656L
c.1966A>T
1 paper
NM_014671.3
p.S676F
c.2027C>T
1 paper
NM_014671.3
p.R698*
c.2092C>T
1 paper
NM_014671.3
p.I579S
c.1736T>G
1 paper
NM_014671.3
p.R550Q
c.1649G>A
1 paper
NM_014671.3
p.R547*
c.1639C>T
1 paper
NM_014671.3
p.F520L
c.1560C>A
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