Varaico: Literature-Extracted Genetic Variants

Gene:CDH15
Variant:p.L595_L596delins

CDH15

123 papers

RefSeq Summary

This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains,...

Pfam Domains

Cadherinaa 50–143UCSCCadherin domain
Cadherinaa 157–251UCSCCadherin domain
Cadherinaa 266–367UCSCCadherin domain
Cadherinaa 380–474UCSCCadherin domain
CADH_Y-type_LIRaa 722–781UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 15

HGNC Previous Symbol

CDH14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004933.3
p.L595_L596delins
c.1785_1786delinsTT
Surrounding Variants
1 paper
NM_004933.3
p.A597T
c.1789G>A
1 paper
NM_004933.3
p.G599V
c.1796G>T
1 paper
NM_004933.3
p.T600T
c.1800A>G
1 paper
NM_004933.3
p.L607V
c.1819C>G
4 papers
NM_004933.3
p.K584Q
c.1750A>C
3 papers
NM_004933.3
p.C582*
c.1746C>A
1 paper
NM_004933.3
p.V619Splc
c.1855+1G>C
1 paper
NM_004933.3
p.L560L
c.1680G>A
1 paper
NM_004933.3
p.H555Q
c.1665C>A
1 paper
NM_004933.3
p.H555Q
c.1665C>G
1 paper
NM_004933.3
p.P487L
c.1460C>T
1 paper
NM_004933.3
p.P487_P488delFs
c.1460_1463del4
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