Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.Q297R

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.Q297R
c.890A>G
Surrounding Variants
1 paper
NM_001080534.3
p.Q297E
c.889C>G
1 paper
NM_001080534.3
p.Q297*
c.889C>T
1 paper
NM_001080534.3
p.V296V
c.888C>T
1 paper
NM_001080534.3
p.S298F
c.893C>T
1 paper
NM_001080534.3
p.V296A
c.887T>C
1 paper
NM_001080534.3
p.V296I
c.886G>A
1 paper
NM_001080534.3
p.V296F
c.886G>T
1 paper
NM_001080534.3
p.R299G
c.895C>G
1 paper
NM_001080534.3
p.R299W
c.895C>T
1 paper
NM_001080534.3
p.F295L
c.885T>A
1 paper
NM_001080534.3
p.F295F
c.885T>C
1 paper
NM_001080534.3
p.F295L
c.885T>G
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