Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.R95*

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
2 papers
NM_001080534.3
p.R95*
c.283C>T
Surrounding Variants
1 paper
NM_001080534.3
p.R95R
c.283C>A
1 paper
NM_001080534.3
p.R95G
c.283C>G
1 paper
NM_001080534.3
p.R95Q
c.284G>A
2 papers
NM_001080534.3
p.R95L
c.284G>T
1 paper
NM_001080534.3
p.R95R
c.285A>G
1 paper
NM_001080534.3
p.R95R
c.285A>T
1 paper
NM_001080534.3
p.V96_A99del4
c.286_296del12
1 paper
NM_001080534.3
p.V96I
c.286G>A
1 paper
NM_001080534.3
p.V96L
c.286G>C
1 paper
NM_001080534.3
p.V96L
c.286G>T
2 papers
NM_001080534.3
p.V96E
c.287T>A
1 paper
NM_001080534.3
p.S93S
c.279T>C
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