Varaico: Literature-Extracted Genetic Variants

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.R42H

c.125G>A

Surrounding Variants

2 papers

NM_004933.3

p.R44Q

c.131G>A

1 paper

NM_004933.3

p.A46D

c.137C>A

3 papers

NM_004933.3

p.A37S

c.109G>T

1 paper

NM_004933.3

p.I49V

c.145A>G

1 paper

NM_004933.3

p.W34fs

c.100_101fs

1 paper

NM_004933.3

p.W34delFs

c.100delT

2 papers

NM_004933.3

p.Y32*

c.96C>A

2 papers

NM_004933.3

p.Y32*

c.96C>G

1 paper

NM_004933.3

p.E56D

c.168G>C

1 paper

NM_004933.3

p.E56D

c.168G>T

1 paper

NM_004933.3

p.H58H

c.174C>T

1 paper

NM_004933.3

p.W25_R26insFs

c.75_76insA