Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S231R

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.S231R
c.693T>A
Surrounding Variants
1 paper
NM_001080534.3
p.S231S
c.693T>C
1 paper
NM_001080534.3
p.S231R
c.693T>G
1 paper
NM_001080534.3
p.S231N
c.692G>A
1 paper
NM_001080534.3
p.S231T
c.692G>C
1 paper
NM_001080534.3
p.S231I
c.692G>T
1 paper
NM_001080534.3
p.S231R
c.691A>C
1 paper
NM_001080534.3
p.S232F
c.695C>T
1 paper
NM_001080534.3
p.S232S
c.696C>T
1 paper
NM_001080534.3
p.G229G
c.687G>A
1 paper
NM_001080534.3
p.G234delFs
c.700_701delGG
1 paper
NM_001080534.3
p.G229E
c.686G>A
1 paper
NM_001080534.3
p.G234fs
c.700_701fs
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