Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.E911*

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.E911*
c.2731G>T
Surrounding Variants
1 paper
NM_001080534.3
p.G924D
c.2771G>A
2 papers
NM_001080534.3
p.M929I
c.2787G>A
2 papers
NM_001080534.3
p.M929I
c.2787G>C
2 papers
NM_001080534.3
p.M929I
c.2787G>T
1 paper
NM_001080534.3
p.E936*
c.2806G>T
1 paper
NM_001080534.3
p.S942L
c.2825C>T
3 papers
NM_001080534.3
p.R834Q
c.2501G>A
1 paper
NM_001080534.3
p.L992L
c.2974T>C
1 paper
NM_001080534.3
p.L992V
c.2974T>G
1 paper
NM_001080534.3
p.L829L
c.2485T>C
1 paper
NM_001080534.3
p.E823G
c.2468A>G
1 paper
NM_001080534.3
p.K790T
c.2369A>C
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