Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S137R

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.S137R
c.411C>G
Surrounding Variants
1 paper
NM_001080534.3
p.S137R
c.411C>A
1 paper
NM_001080534.3
p.T138A
c.412A>G
1 paper
NM_001080534.3
p.S137N
c.410G>A
1 paper
NM_001080534.3
p.S137T
c.410G>C
1 paper
NM_001080534.3
p.S137R
c.409A>C
1 paper
NM_001080534.3
p.S137G
c.409A>G
1 paper
NM_001080534.3
p.T138T
c.414A>G
1 paper
NM_001080534.3
p.N140_Q141insFs
c.418_422dup5
1 paper
NM_001080534.3
p.R135R
c.405G>A
1 paper
NM_001080534.3
p.R135K
c.404G>A
1 paper
NM_001080534.3
p.Q141E
c.421C>G
1 paper
NM_001080534.3
p.Q141delFs
c.422delA
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