Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S89P

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.S89P
c.265T>C
Surrounding Variants
1 paper
NM_001080534.3
p.S89*
c.266C>A
1 paper
NM_001080534.3
p.S89*
c.266C>G
1 paper
NM_001080534.3
p.L88L
c.264C>T
1 paper
NM_001080534.3
p.P90T
c.268C>A
1 paper
NM_001080534.3
p.L88V
c.262C>G
1 paper
NM_001080534.3
p.P90S
c.268C>T
1 paper
NM_001080534.3
p.S87S
c.261C>T
1 paper
NM_001080534.3
p.S87C
c.260C>G
1 paper
NM_001080534.3
p.T91A
c.271A>G
1 paper
NM_001080534.3
p.T91S
c.271A>T
1 paper
NM_001080534.3
p.T91I
c.272C>T
1 paper
NM_001080534.3
p.F86F
c.258T>C
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