Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.L250F

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.L250F
c.748C>T
Surrounding Variants
1 paper
NM_001080534.3
p.Q251K
c.751C>A
1 paper
NM_001080534.3
p.Q251*
c.751C>T
1 paper
NM_001080534.3
p.E249*
c.745G>T
1 paper
NM_001080534.3
p.Q251P
c.752A>C
1 paper
NM_001080534.3
p.Q251R
c.752A>G
1 paper
NM_001080534.3
p.K248K
c.744G>A
1 paper
NM_001080534.3
p.K248N
c.744G>C
1 paper
NM_001080534.3
p.K248N
c.744G>T
1 paper
NM_001080534.3
p.Q251Q
c.753G>A
1 paper
NM_001080534.3
p.F247F
c.741T>C
1 paper
NM_001080534.3
p.F247C
c.740T>G
1 paper
NM_001080534.3
p.I253V
c.757A>G
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