Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.L120L

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.L120L
c.360C>G
Surrounding Variants
1 paper
NM_001080534.3
p.L120L
c.360C>T
1 paper
NM_001080534.3
p.S121C
c.362C>G
1 paper
NM_001080534.3
p.S121F
c.362C>T
1 paper
NM_001080534.3
p.E119G
c.356A>G
1 paper
NM_001080534.3
p.E119V
c.356A>T
1 paper
NM_001080534.3
p.S122L
c.365C>T
1 paper
NM_001080534.3
p.Q118Q
c.354A>G
1 paper
NM_001080534.3
p.S122S
c.366A>G
1 paper
NM_001080534.3
p.S122S
c.366A>T
1 paper
NM_001080534.3
p.I123V
c.367A>G
1 paper
NM_001080534.3
p.I123F
c.367A>T
1 paper
NM_001080534.3
p.I123I
c.369C>A
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