Varaico: Literature-Extracted Genetic Variants

Gene:CDH15
Variant:p.E210D

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.E210D
c.630G>T
Surrounding Variants
1 paper
NM_004933.3
p.E210D
c.630G>C
1 paper
NM_004933.3
p.V214M
c.640G>A
1 paper
NM_004933.3
p.E206K
c.616G>A
1 paper
NM_004933.3
p.R220_E221delFs
c.660_661delCG
1 paper
NM_004933.3
p.R220C
c.658C>T
1 paper
NM_004933.3
p.E221K
c.661G>A
1 paper
NM_004933.3
p.E200K
c.598G>A
1 paper
NM_004933.3
p.Q196H
c.588G>C
1 paper
NM_004933.3
p.Q196H
c.588G>T
1 paper
NM_004933.3
p.Q195H
c.585G>C
1 paper
NM_004933.3
p.Q195H
c.585G>T
1 paper
NM_004933.3
p.D181N
c.541G>A
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