Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.Q103K

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.Q103K
c.307C>A
Surrounding Variants
1 paper
NM_001080534.3
p.Q103*
c.307C>T
1 paper
NM_001080534.3
p.L102L
c.306A>G
1 paper
NM_001080534.3
p.Q103Q
c.309A>G
1 paper
NM_001080534.3
p.L102V
c.304C>G
1 paper
NM_001080534.3
p.L102L
c.304C>T
1 paper
NM_001080534.3
p.G101G
c.303C>A
1 paper
NM_001080534.3
p.G101G
c.303C>T
1 paper
NM_001080534.3
p.G101D
c.302G>A
1 paper
NM_001080534.3
p.K104N
c.312G>C
1 paper
NM_001080534.3
p.K104N
c.312G>T
1 paper
NM_001080534.3
p.N105Y
c.313A>T
1 paper
NM_001080534.3
p.G101S
c.301G>A
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