Varaico: Literature-Extracted Genetic Variants

Gene:C2CD2L
Variant:p.E476fs

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.E476fs
c.1426_1427fs
Surrounding Variants
1 paper
NM_001290474.2
p.T475_E476ins1
c.1425_1426insTTG
1 paper
NM_001290474.2
p.T475_E476insFs
c.1425_1426ins5
1 paper
NM_001290474.2
p.S483N
c.1448G>A
1 paper
NM_001290474.2
p.E484D
c.1452G>C
1 paper
NM_001290474.2
p.E484D
c.1452G>T
1 paper
NM_001290474.2
p.S466T
c.1396T>A
1 paper
NM_001290474.2
p.P488A
c.1462C>G
1 paper
NM_001290474.2
p.R497W
c.1489C>T
1 paper
NM_001290474.2
p.D463Splc
c.1388-95C>G
1 paper
NM_001290474.2
p.V523_A524insC
c.1567_1571ins3
1 paper
NM_001290474.2
p.A524T
c.1570G>A
1 paper
NM_001290474.2
p.K526K
c.1578G>A
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