Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.V390V

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.V390V
c.1170C>G
Surrounding Variants
1 paper
NM_001080534.3
p.V390V
c.1170C>T
1 paper
NM_001080534.3
p.V390I
c.1168G>A
1 paper
NM_001080534.3
p.K393insFs
c.1178dupA
1 paper
NM_001080534.3
p.L391F
c.1173A>C
1 paper
NM_001080534.3
p.L391F
c.1173A>T
1 paper
NM_001080534.3
p.K392T
c.1175A>C
1 paper
NM_001080534.3
p.S389P
c.1165T>C
1 paper
NM_001080534.3
p.K392N
c.1176A>C
1 paper
NM_001080534.3
p.K392K
c.1176A>G
1 paper
NM_001080534.3
p.K392N
c.1176A>T
1 paper
NM_001080534.3
p.D388D
c.1164T>C
1 paper
NM_001080534.3
p.K393E
c.1177A>G
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