Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.K84E

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.K84E
c.250A>G
Surrounding Variants
1 paper
NM_001080534.3
p.E85delFs
c.254_255delAG
1 paper
NM_001080534.3
p.S83N
c.248G>A
1 paper
NM_001080534.3
p.E85Q
c.253G>C
1 paper
NM_001080534.3
p.A82A
c.246C>T
1 paper
NM_001080534.3
p.A82D
c.245C>A
2 papers
NM_001080534.3
p.E85E
c.255G>A
1 paper
NM_001080534.3
p.E81D
c.243G>C
1 paper
NM_001080534.3
p.E81D
c.243G>T
1 paper
NM_001080534.3
p.F86S
c.257T>C
1 paper
NM_001080534.3
p.E81G
c.242A>G
1 paper
NM_001080534.3
p.F86F
c.258T>C
1 paper
NM_001080534.3
p.E81K
c.241G>A
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