Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S349L

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.S349L
c.1046C>T
Surrounding Variants
1 paper
NM_001080534.3
p.S349S
c.1047A>G
1 paper
NM_001080534.3
p.S349P
c.1045T>C
1 paper
NM_001080534.3
p.D350N
c.1048G>A
1 paper
NM_001080534.3
p.D350H
c.1048G>C
1 paper
NM_001080534.3
p.F348C
c.1043T>G
1 paper
NM_001080534.3
p.D350E
c.1050T>A
1 paper
NM_001080534.3
p.D350E
c.1050T>G
1 paper
NM_001080534.3
p.A351S
c.1051G>T
1 paper
NM_001080534.3
p.G347G
c.1041T>G
1 paper
NM_001080534.3
p.A351E
c.1052C>A
1 paper
NM_001080534.3
p.G347D
c.1040G>A
1 paper
NM_001080534.3
p.S349insFs
c.1045dupT
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