Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.K33Q

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.K33Q
c.97A>C
Surrounding Variants
1 paper
NM_001080534.3
p.K33fs
c.97_98fs
1 paper
NM_001080534.3
p.K33R
c.98A>G
1 paper
NM_001080534.3
p.N32K
c.96C>A
1 paper
NM_001080534.3
p.N32K
c.96C>G
1 paper
NM_001080534.3
p.N32N
c.96C>T
1 paper
NM_001080534.3
p.K33delFs
c.98_99delAA
1 paper
NM_001080534.3
p.N32I
c.95A>T
1 paper
NM_001080534.3
p.E34K
c.100G>A
1 paper
NM_001080534.3
p.K31N
c.93A>C
1 paper
NM_001080534.3
p.K31N
c.93A>T
1 paper
NM_001080534.3
p.K31R
c.92A>G
1 paper
NM_001080534.3
p.N32_K33delFs
c.96_99del4
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