Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S488_A489del2

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.S488_A489del2
c.1462_1466del6
Surrounding Variants
2 papers
NM_001080534.3
p.S469F
c.1406C>T
1 paper
NM_001080534.3
p.L468P
c.1403T>C
1 paper
NM_001080534.3
p.D508N
c.1522G>A
1 paper
NM_001080534.3
p.E516insFs
c.1547_1548ins4
1 paper
NM_001080534.3
p.S517insFs
c.1549dupT
1 paper
NM_001080534.3
p.N445N
c.1335T>C
1 paper
NM_001080534.3
p.N445T
c.1334A>C
1 paper
NM_001080534.3
p.N445S
c.1334A>G
1 paper
NM_001080534.3
p.N445H
c.1333A>C
2 papers
NM_001080534.3
p.N444K
c.1332C>A
2 papers
NM_001080534.3
p.N444K
c.1332C>G
1 paper
NM_001080534.3
p.N445del1
c.1333_1334delAAT
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