Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.D304E

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.D304E
c.912C>G
Surrounding Variants
3 papers
NM_001080534.3
p.D304E
c.912C>A
1 paper
NM_001080534.3
p.D304D
c.912C>T
1 paper
NM_001080534.3
p.R303R
c.909A>G
1 paper
NM_001080534.3
p.I305M
c.915C>G
1 paper
NM_001080534.3
p.I305I
c.915C>T
2 papers
NM_001080534.3
p.H306Y
c.916C>T
1 paper
NM_001080534.3
p.R303K
c.908G>A
1 paper
NM_001080534.3
p.R303T
c.908G>C
1 paper
NM_001080534.3
p.H306R
c.917A>G
1 paper
NM_001080534.3
p.H306H
c.918T>C
1 paper
NM_001080534.3
p.T302I
c.905C>T
1 paper
NM_001080534.3
p.T302P
c.904A>C
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