Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.E428D

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.E428D
c.1284G>C
Surrounding Variants
1 paper
NM_001080534.3
p.E428D
c.1284G>T
1 paper
NM_001080534.3
p.S429C
c.1285A>T
1 paper
NM_001080534.3
p.S429N
c.1286G>A
1 paper
NM_001080534.3
p.E428insFs
c.1283dupA
1 paper
NM_001080534.3
p.Y427Y
c.1281T>C
1 paper
NM_001080534.3
p.Y427C
c.1280A>G
1 paper
NM_001080534.3
p.M430T
c.1289T>C
1 paper
NM_001080534.3
p.Y427D
c.1279T>G
1 paper
NM_001080534.3
p.T426T
c.1278A>G
1 paper
NM_001080534.3
p.T426I
c.1277C>T
1 paper
NM_001080534.3
p.A431T
c.1291G>A
1 paper
NM_001080534.3
p.A431P
c.1291G>C
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