Varaico: Literature-Extracted Genetic Variants

Gene:C2CD2L
Variant:p.L223_Q224insFs

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.L223_Q224insFs
c.669_670ins5
Surrounding Variants
1 paper
NM_001290474.2
p.M253T
c.758T>C
1 paper
NM_001290474.2
p.A259V
c.776C>T
1 paper
NM_001290474.2
p.T183_T185delFs
c.547_554del8
1 paper
NM_001290474.2
p.E178D
c.534G>C
1 paper
NM_001290474.2
p.E178D
c.534G>T
1 paper
NM_001290474.2
p.V175insFs
c.523_524insC
1 paper
NM_001290474.2
p.S171F
c.512C>T
1 paper
NM_001290474.2
p.E270D
c.810G>C
1 paper
NM_001290474.2
p.E270D
c.810G>T
1 paper
NM_001290474.2
p.R162Q
c.485G>A
1 paper
NM_001290474.2
p.R162W
c.484C>T
1 paper
NM_001290474.2
p.F289V
c.865T>G
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