Varaico: Literature-Extracted Genetic Variants

Gene:C2CD2L
Variant:p.G118_S119Splc

C2CD2L

37 papers

Pfam Domains

SMP_C2CD2Laa 102–253UCSCSynaptotagmin-like, mitochondrial and lipid-binding domain
C2aa 286–387UCSCC2 domain

Gene Aliases

HGNC Name

C2CD2 like

HGNC Alias Symbol

KIAA0285

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001290474.2
p.G118_S119Splc
c.354+9G>A
Surrounding Variants
1 paper
NM_001290474.2
p.C115R
c.343T>C
2 papers
NM_001290474.2
p.E112K
c.334G>A
1 paper
NM_001290474.2
p.A109V
c.326C>T
1 paper
NM_001290474.2
p.G87G
c.261C>T
1 paper
NM_001290474.2
p.R86Q
c.257G>A
1 paper
NM_001290474.2
p.S59F
c.176C>T
1 paper
NM_001290474.2
p.R41Fs
c.121delinsCGFs
1 paper
NM_001290474.2
p.A135T
c.403G>A
1 paper
NM_001290474.2
p.I137M
c.411C>G
1 paper
NM_001290474.2
p.R162W
c.484C>T
1 paper
NM_001290474.2
p.R162Q
c.485G>A
1 paper
NM_001290474.2
p.S171F
c.512C>T
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