Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S682N

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.S682N
c.2045G>A
Surrounding Variants
1 paper
NM_001080534.3
p.T672N
c.2015C>A
1 paper
NM_001080534.3
p.K700_C701del2
c.2098_2102del6
1 paper
NM_001080534.3
p.P656T
c.1966C>A
1 paper
NM_001080534.3
p.L654F
c.1960C>T
1 paper
NM_001080534.3
p.H651N
c.1951C>A
1 paper
NM_001080534.3
p.S721F
c.2162C>T
1 paper
NM_001080534.3
p.V735I
c.2203G>A
1 paper
NM_001080534.3
p.T624N
c.1871C>A
1 paper
NM_001080534.3
p.Q616H
c.1848G>C
1 paper
NM_001080534.3
p.Q616H
c.1848G>T
1 paper
NM_001080534.3
p.N754K
c.2262C>A
1 paper
NM_001080534.3
p.N754K
c.2262C>G
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