Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.V2196A

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
3 papers
NM_001080534.3
p.V2196A
c.6587T>C
Surrounding Variants
1 paper
NM_001080534.3
p.D2194N
c.6580G>A
1 paper
NM_001080534.3
p.D2178G
c.6533A>G
1 paper
NM_001080534.3
p.*2215insFs
c.6644_6645ins4
1 paper
NM_001080534.3
p.L2156L
c.6468A>G
2 papers
NM_001080534.3
p.G2150R
c.6448G>A
2 papers
NM_001080534.3
p.G2150R
c.6448G>C
1 paper
NM_001080534.3
p.L2133R
c.6398T>G
1 paper
NM_001080534.3
p.E2132K
c.6394G>A
1 paper
NM_001080534.3
p.G2129A
c.6386G>C
1 paper
NM_001080534.3
p.G2123R
c.6367G>A
1 paper
NM_001080534.3
p.G2123R
c.6367G>C
1 paper
NM_001080534.3
p.E2116D
c.6348A>C
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