Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.E78E

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.E78E
c.234G>A
Surrounding Variants
1 paper
NM_001080534.3
p.E79delFs
c.237delA
1 paper
NM_001080534.3
p.T77T
c.231T>C
1 paper
NM_001080534.3
p.T77N
c.230C>A
1 paper
NM_001080534.3
p.D80N
c.238G>A
1 paper
NM_001080534.3
p.T77A
c.229A>G
1 paper
NM_001080534.3
p.D80E
c.240C>A
1 paper
NM_001080534.3
p.S76S
c.228C>G
1 paper
NM_001080534.3
p.D80E
c.240C>G
1 paper
NM_001080534.3
p.D80D
c.240C>T
1 paper
NM_001080534.3
p.S76C
c.227C>G
1 paper
NM_001080534.3
p.E81K
c.241G>A
1 paper
NM_001080534.3
p.E81*
c.241G>T
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