Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.L270I

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.L270I
c.808C>A
Surrounding Variants
1 paper
NM_001080534.3
p.L270L
c.810C>A
1 paper
NM_001080534.3
p.L270L
c.810C>G
1 paper
NM_001080534.3
p.A269V
c.806C>T
1 paper
NM_001080534.3
p.A269T
c.805G>A
1 paper
NM_001080534.3
p.K271R
c.812A>G
1 paper
NM_001080534.3
p.N268K
c.804T>A
1 paper
NM_001080534.3
p.N268K
c.804T>G
1 paper
NM_001080534.3
p.N268T
c.803A>C
2 papers
NM_001080534.3
p.N268S
c.803A>G
1 paper
NM_001080534.3
p.K271N
c.813G>C
1 paper
NM_001080534.3
p.K271N
c.813G>T
1 paper
NM_001080534.3
p.N268Y
c.802A>T
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