Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.G229E

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.G229E
c.686G>A
Surrounding Variants
1 paper
NM_001080534.3
p.G229V
c.686G>T
1 paper
NM_001080534.3
p.G229R
c.685G>A
1 paper
NM_001080534.3
p.G229G
c.687G>A
1 paper
NM_001080534.3
p.G229R
c.685G>C
1 paper
NM_001080534.3
p.G229W
c.685G>T
1 paper
NM_001080534.3
p.P228P
c.684A>G
1 paper
NM_001080534.3
p.P228L
c.683C>T
1 paper
NM_001080534.3
p.P228T
c.682C>A
1 paper
NM_001080534.3
p.P228A
c.682C>G
1 paper
NM_001080534.3
p.S231R
c.691A>C
1 paper
NM_001080534.3
p.E227D
c.681G>C
1 paper
NM_001080534.3
p.E227D
c.681G>T
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