Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.E114K

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.E114K
c.340G>A
Surrounding Variants
1 paper
NM_001080534.3
p.E114V
c.341A>T
1 paper
NM_001080534.3
p.N113N
c.339T>C
1 paper
NM_001080534.3
p.N113S
c.338A>G
1 paper
NM_001080534.3
p.E114E
c.342G>A
1 paper
NM_001080534.3
p.N113D
c.337A>G
1 paper
NM_001080534.3
p.N113Y
c.337A>T
1 paper
NM_001080534.3
p.D115N
c.343G>A
1 paper
NM_001080534.3
p.D115H
c.343G>C
1 paper
NM_001080534.3
p.D115_L116ins15
c.343_347ins45
1 paper
NM_001080534.3
p.D112E
c.336T>A
1 paper
NM_001080534.3
p.D112E
c.336T>G
1 paper
NM_001080534.3
p.D112A
c.335A>C
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