Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.T223K

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.T223K
c.668C>A
Surrounding Variants
1 paper
NM_001080534.3
p.T223R
c.668C>G
1 paper
NM_001080534.3
p.N224N
c.672T>C
1 paper
NM_001080534.3
p.A225D
c.674C>A
1 paper
NM_001080534.3
p.P221R
c.662C>G
1 paper
NM_001080534.3
p.L226V
c.676C>G
1 paper
NM_001080534.3
p.P221delFs
c.662delC
1 paper
NM_001080534.3
p.L226Q
c.677T>A
1 paper
NM_001080534.3
p.L226R
c.677T>G
1 paper
NM_001080534.3
p.L226L
c.678G>A
1 paper
NM_001080534.3
p.E227Q
c.679G>C
1 paper
NM_001080534.3
p.R219Q
c.656G>A
1 paper
NM_001080534.3
p.R219*
c.655C>T
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