Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.V2L

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.V2L
c.4G>C
Surrounding Variants
1 paper
NM_001080534.3
p.V2L
c.4G>T
1 paper
NM_001080534.3
p.M1I
c.3G>A
1 paper
NM_001080534.3
p.M1I
c.3G>C
1 paper
NM_001080534.3
p.M1I
c.3G>T
1 paper
NM_001080534.3
p.V2A
c.5T>C
1 paper
NM_001080534.3
p.V2insFs
c.6dupG
1 paper
NM_001080534.3
p.V2delFs
c.4delG
1 paper
NM_001080534.3
p.M1V
c.1A>G
1 paper
NM_001080534.3
p.A3T
c.7G>A
1 paper
NM_001080534.3
p.A3P
c.7G>C
1 paper
NM_001080534.3
p.A3S
c.7G>T
1 paper
NM_001080534.3
p.A3A
c.9T>G
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