Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.R171H

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
5 papers
NM_001080534.3
p.R171H
c.512G>A
Surrounding Variants
1 paper
NM_001080534.3
p.R171C
c.511C>T
1 paper
NM_001080534.3
p.T172S
c.514A>T
1 paper
NM_001080534.3
p.E170E
c.510G>A
1 paper
NM_001080534.3
p.T172S
c.515C>G
1 paper
NM_001080534.3
p.E170*
c.508G>T
1 paper
NM_001080534.3
p.T172T
c.516T>C
1 paper
NM_001080534.3
p.L173I
c.517C>A
1 paper
NM_001080534.3
p.L173P
c.518T>C
1 paper
NM_001080534.3
p.L173L
c.519A>T
2 papers
NM_001080534.3
p.G169R
c.505G>A
2 papers
NM_001080534.3
p.G169R
c.505G>C
1 paper
NM_001080534.3
p.H174N
c.520C>A
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