Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.R416I

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.R416I
c.1247G>T
Surrounding Variants
1 paper
NM_001080534.3
p.R416K
c.1247G>A
1 paper
NM_001080534.3
p.K417E
c.1249A>G
1 paper
NM_001080534.3
p.K417*
c.1249A>T
1 paper
NM_001080534.3
p.K417K
c.1251A>G
1 paper
NM_001080534.3
p.E415Q
c.1243G>C
1 paper
NM_001080534.3
p.E418G
c.1253A>G
1 paper
NM_001080534.3
p.E418E
c.1254G>A
1 paper
NM_001080534.3
p.I413L
c.1237A>C
1 paper
NM_001080534.3
p.K419K
c.1257A>G
1 paper
NM_001080534.3
p.I413F
c.1237A>T
2 papers
NM_001080534.3
p.G420R
c.1258G>A
2 papers
NM_001080534.3
p.G420R
c.1258G>C
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