Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.E329D

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.E329D
c.987A>C
Surrounding Variants
1 paper
NM_001080534.3
p.E329D
c.987A>T
1 paper
NM_001080534.3
p.E329G
c.986A>G
1 paper
NM_001080534.3
p.E329K
c.985G>A
1 paper
NM_001080534.3
p.E329*
c.985G>T
1 paper
NM_001080534.3
p.F331L
c.991T>C
1 paper
NM_001080534.3
p.F331L
c.993T>A
1 paper
NM_001080534.3
p.F331L
c.993T>G
1 paper
NM_001080534.3
p.T327N
c.980C>A
1 paper
NM_001080534.3
p.E332Q
c.994G>C
1 paper
NM_001080534.3
p.E332*
c.994G>T
1 paper
NM_001080534.3
p.T327A
c.979A>G
1 paper
NM_001080534.3
p.E332D
c.996A>C
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