Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.N325_E329del5

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.N325_E329del5
c.973_986del15
Surrounding Variants
1 paper
NM_001080534.3
p.N325Y
c.973A>T
1 paper
NM_001080534.3
p.F323L
c.969T>A
1 paper
NM_001080534.3
p.F323L
c.969T>G
1 paper
NM_001080534.3
p.N325T
c.974A>C
1 paper
NM_001080534.3
p.F323L
c.967T>C
1 paper
NM_001080534.3
p.L324insFs
c.971dupT
1 paper
NM_001080534.3
p.V326V
c.978G>A
1 paper
NM_001080534.3
p.T327A
c.979A>G
1 paper
NM_001080534.3
p.T327N
c.980C>A
1 paper
NM_001080534.3
p.A319A
c.957A>C
1 paper
NM_001080534.3
p.E329K
c.985G>A
1 paper
NM_001080534.3
p.E329*
c.985G>T
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