Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.Q38H

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.Q38H
c.114G>C
Surrounding Variants
1 paper
NM_001080534.3
p.Q38H
c.114G>T
1 paper
NM_001080534.3
p.K39R
c.116A>G
1 paper
NM_001080534.3
p.K39I
c.116A>T
1 paper
NM_001080534.3
p.K40R
c.119A>G
1 paper
NM_001080534.3
p.Q37*
c.109C>T
1 paper
NM_001080534.3
p.K40K
c.120G>A
1 paper
NM_001080534.3
p.K40N
c.120G>C
1 paper
NM_001080534.3
p.K40N
c.120G>T
1 paper
NM_001080534.3
p.K39ins5
c.115_116ins15
2 papers
NM_001080534.3
p.R36H
c.107G>A
1 paper
NM_001080534.3
p.D41V
c.122A>T
1 paper
NM_001080534.3
p.R36S
c.106C>A
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