Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.L17L

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.L17L
c.51T>C
Surrounding Variants
1 paper
NM_001080534.3
p.L17H
c.50T>A
1 paper
NM_001080534.3
p.C18R
c.52T>C
1 paper
NM_001080534.3
p.C18Y
c.53G>A
1 paper
NM_001080534.3
p.K19E
c.55A>G
1 paper
NM_001080534.3
p.K19*
c.55A>T
1 paper
NM_001080534.3
p.K19R
c.56A>G
1 paper
NM_001080534.3
p.K19K
c.57A>G
1 paper
NM_001080534.3
p.H15H
c.45T>C
1 paper
NM_001080534.3
p.H15R
c.44A>G
1 paper
NM_001080534.3
p.H15D
c.43C>G
1 paper
NM_001080534.3
p.H15Y
c.43C>T
1 paper
NM_001080534.3
p.H15delFs
c.43delC
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