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

2 papers

NM_001793.6

p.L536P

c.1607T>C

Surrounding Variants

2 papers

NM_001793.6

p.T531K

c.1592C>A

1 paper

NM_001793.6

p.G530insFs

c.1588_1589insC

5 papers

NM_001793.6

p.N542N

c.1626T>C

1 paper

NM_001793.6

p.H544L

c.1631A>T

1 paper

NM_001793.6

p.T528S

c.1583C>G

1 paper

NM_001793.6

p.T528S

c.1582A>T

1 paper

NM_001793.6

p.P550S

c.1648C>T

1 paper

NM_001793.6

p.R551C

c.1651C>T

1 paper

NM_001793.6

p.Q552E

c.1654C>G

1 paper

NM_001793.6

p.T554P

c.1660A>C

1 paper

NM_001793.6

p.I555M

c.1665C>G

1 paper

NM_001793.6

p.S559delFs

c.1675delA