Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.P384H

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.P384H
c.1151C>A
Surrounding Variants
1 paper
NM_001080534.3
p.P384R
c.1151C>G
1 paper
NM_001080534.3
p.P384L
c.1151C>T
1 paper
NM_001080534.3
p.P384T
c.1150C>A
1 paper
NM_001080534.3
p.P384S
c.1150C>T
1 paper
NM_001080534.3
p.Q385E
c.1153C>G
1 paper
NM_001080534.3
p.Q385*
c.1153C>T
1 paper
NM_001080534.3
p.Q385P
c.1154A>C
2 papers
NM_001080534.3
p.T383N
c.1148C>A
1 paper
NM_001080534.3
p.T383S
c.1148C>G
1 paper
NM_001080534.3
p.T383I
c.1148C>T
1 paper
NM_001080534.3
p.Q385Q
c.1155A>G
1 paper
NM_001080534.3
p.T383S
c.1147A>T
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