Varaico: Literature-Extracted Genetic Variants

CDH3

220 papers

RefSeq Summary

This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically ...

Pfam Domains

Cadherinaa 112–206UCSCCadherin domain

Cadherinaa 220–319UCSCCadherin domain

Cadherinaa 333–432UCSCCadherin domain

Cadherinaa 445–539UCSCCadherin domain

CADH_Y-type_LIRaa 765–824UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 3

HGNC Alias Symbols

CDHP; PCAD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001793.6

p.V205M

c.613G>A

Surrounding Variants

1 paper

NM_001793.6

p.V205L

c.613G>C

1 paper

NM_001793.6

p.V205L

c.613G>T

1 paper

NM_001793.6

p.I204I

c.612C>A

1 paper

NM_001793.6

p.M199_V205delFs

c.595_613del19

2 papers

NM_001793.6

p.K214*

c.640A>T

1 paper

NM_001793.6

p.G192V

c.575G>T

1 paper

NM_001793.6

p.D218D

c.654C>T

1 paper

NM_001793.6

p.T219S

c.655A>T

1 paper

NM_001793.6

p.T219S

c.656C>G

13 papers

NM_001793.6

p.R221*

c.661C>T

1 paper

NM_001793.6

p.R221_G222insFs

c.663_664insGG

1 paper

NM_001793.6

p.S223fs

c.667_668fs