Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.K40R

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.K40R
c.119A>G
Surrounding Variants
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.K39R
c.116A>G
1 paper
NM_001080534.3
p.K39I
c.116A>T
1 paper
NM_001080534.3
p.D41V
c.122A>T
1 paper
NM_001080534.3
p.D41E
c.123T>A
1 paper
NM_001080534.3
p.D41E
c.123T>G
1 paper
NM_001080534.3
p.Q38H
c.114G>C
1 paper
NM_001080534.3
p.Q38H
c.114G>T
1 paper
NM_001080534.3
p.Q42R
c.125A>G
1 paper
NM_001080534.3
p.Q42Q
c.126A>G
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