Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.L181L

UNC13C

173 papers

Pfam Domains

C1_1aa 1098–1150UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C2aa 1220–1329UCSCC2 domain
MUNaa 1540–2028UCSCMUN domain
C2aa 2061–2171UCSCC2 domain

Gene Aliases

HGNC Name

unc-13 homolog C

HGNC Alias Symbols

Munc13-3; DKFZp547H074

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080534.3
p.L181L
c.541T>C
Surrounding Variants
1 paper
NM_001080534.3
p.L181*
c.542T>A
1 paper
NM_001080534.3
p.L181*
c.542T>G
1 paper
NM_001080534.3
p.A180V
c.539C>T
2 papers
NM_001080534.3
p.R182*
c.544C>T
1 paper
NM_001080534.3
p.A180P
c.538G>C
1 paper
NM_001080534.3
p.G179G
c.537A>G
1 paper
NM_001080534.3
p.R182Q
c.545G>A
1 paper
NM_001080534.3
p.R182P
c.545G>C
1 paper
NM_001080534.3
p.R182L
c.545G>T
1 paper
NM_001080534.3
p.R182R
c.546A>C
1 paper
NM_001080534.3
p.G179E
c.536G>A
1 paper
NM_001080534.3
p.G179A
c.536G>C
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