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

13 papers

NM_001793.6

p.E504K

c.1510G>A

Surrounding Variants

31 papers

NM_001793.6

p.R503H

c.1508G>A

1 paper

NM_001793.6

p.R503C

c.1507C>T

1 paper

NM_001793.6

p.T500T

c.1500C>G

1 paper

NM_001793.6

p.V498L

c.1492G>C

1 paper

NM_001793.6

p.V498L

c.1492G>T

1 paper

NM_001793.6

p.V498_E506del9

c.1492_1517del27

1 paper

NM_001793.6

p.A520P

c.1558G>C

2 papers

NM_001793.6

p.N523delFs

c.1568delA

2 papers

NM_001793.6

p.N523fs

c.1567_1568fs

1 paper

NM_001793.6

p.N523S

c.1568A>G

1 paper

NM_001793.6

p.D481D

c.1443C>T

1 paper

NM_001793.6

p.L479P

c.1436T>C