Varaico: Literature-Extracted Genetic Variants

Gene:CDH15
Variant:p.Y788*

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
8 papers
NM_004933.3
p.Y788*
c.2364C>G
Surrounding Variants
9 papers
NM_004933.3
p.Y788*
c.2364C>A
2 papers
NM_004933.3
p.G785R
c.2353G>A
2 papers
NM_004933.3
p.G785R
c.2353G>C
1 paper
NM_004933.3
p.L800_S801delFs
c.2398_2401del4
1 paper
NM_004933.3
p.R775Q
c.2324G>A
1 paper
NM_004933.3
p.G803E
c.2408G>A
1 paper
NM_004933.3
p.A804delFs
c.2412delA
1 paper
NM_004933.3
p.L805M
c.2413C>A
1 paper
NM_004933.3
p.L805L
c.2413C>T
1 paper
NM_004933.3
p.R772fs
c.2314_2315fs
1 paper
NM_004933.3
p.W769*
c.2307G>A
1 paper
NM_004933.3
p.W769*
c.2306G>A
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