Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S190R

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.S190R
c.570T>G
Surrounding Variants
1 paper
NM_001080534.3
p.S190R
c.570T>A
1 paper
NM_001080534.3
p.Q191K
c.571C>A
1 paper
NM_001080534.3
p.S190T
c.569G>C
1 paper
NM_001080534.3
p.S190R
c.568A>C
1 paper
NM_001080534.3
p.S190C
c.568A>T
1 paper
NM_001080534.3
p.K189K
c.567G>A
1 paper
NM_001080534.3
p.K189N
c.567G>C
1 paper
NM_001080534.3
p.K189N
c.567G>T
1 paper
NM_001080534.3
p.E192K
c.574G>A
1 paper
NM_001080534.3
p.E192G
c.575A>G
1 paper
NM_001080534.3
p.E192E
c.576A>G
1 paper
NM_001080534.3
p.K188R
c.563A>G
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