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

5 papers

NM_001793.6

p.K652K

c.1956G>A

Surrounding Variants

1 paper

NM_001793.6

p.E645K

c.1933G>A

1 paper

NM_001793.6

p.V663_L664insGG

c.1987_1991ins6

1 paper

NM_001793.6

p.A665_L666insGG

c.1993_1997ins6

4 papers

NM_001793.6

p.S620_L621delFs

c.1859_1862del4

12 papers

NM_001793.6

p.Y615*

c.1845T>A

13 papers

NM_001793.6

p.Y615*

c.1845T>G

11 papers

NM_001793.6

p.G599Splc

c.1796-2A>G

1 paper

NM_001793.6

p.L674V

c.2020C>G

1 paper

NM_001793.6

p.L675_L676del2

c.2023_2027del6

1 paper

NM_001793.6

p.V677V

c.2031G>T

1 paper

NM_001793.6

p.R681Q

c.2042G>A

1 paper

NM_001793.6

p.P686A

c.2056C>G