Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.D1242V

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.D1242V
c.3725A>T
Surrounding Variants
1 paper
NM_001080534.3
p.L1263F
c.3789G>C
1 paper
NM_001080534.3
p.L1263F
c.3789G>T
1 paper
NM_001080534.3
p.P1265L
c.3794C>T
1 paper
NM_001080534.3
p.A1207A
c.3621C>A
1 paper
NM_001080534.3
p.A1206V
c.3617C>T
1 paper
NM_001080534.3
p.K1197N
c.3591A>C
1 paper
NM_001080534.3
p.K1197N
c.3591A>T
1 paper
NM_001080534.3
p.Q1190R
c.3569A>G
1 paper
NM_001080534.3
p.I1189T
c.3566T>C
4 papers
NM_001080534.3
p.R1182Q
c.3545G>A
1 paper
NM_001080534.3
p.K1163R
c.3488A>G
1 paper
NM_001080534.3
p.E1161G
c.3482A>G
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