Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.R185K

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.R185K
c.554G>A
Surrounding Variants
1 paper
NM_001080534.3
p.R185S
c.555A>C
1 paper
NM_001080534.3
p.R185G
c.553A>G
1 paper
NM_001080534.3
p.R185S
c.555A>T
1 paper
NM_001080534.3
p.K186Q
c.556A>C
1 paper
NM_001080534.3
p.L184L
c.552G>A
1 paper
NM_001080534.3
p.L184delFs
c.551delT
1 paper
NM_001080534.3
p.W187*
c.560G>A
1 paper
NM_001080534.3
p.W187*
c.561G>A
1 paper
NM_001080534.3
p.W187C
c.561G>C
1 paper
NM_001080534.3
p.W187C
c.561G>T
1 paper
NM_001080534.3
p.K189delFs
c.565_566delAA
1 paper
NM_001080534.3
p.R182R
c.546A>C
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