Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.E259E

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.E259E
c.777A>G
Surrounding Variants
1 paper
NM_001080534.3
p.L260V
c.778C>G
1 paper
NM_001080534.3
p.L260F
c.778C>T
1 paper
NM_001080534.3
p.T258I
c.773C>T
1 paper
NM_001080534.3
p.S261P
c.781T>C
1 paper
NM_001080534.3
p.S261A
c.781T>G
1 paper
NM_001080534.3
p.T258S
c.772A>T
1 paper
NM_001080534.3
p.S261F
c.782C>T
1 paper
NM_001080534.3
p.S261S
c.783T>C
1 paper
NM_001080534.3
p.E262V
c.785A>T
1 paper
NM_001080534.3
p.E257*
c.769G>T
1 paper
NM_001080534.3
p.L263I
c.787C>A
1 paper
NM_001080534.3
p.L263L
c.787C>T
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