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

1–12 of 243 variants

31 papers

NM_001793.6

p.R503H

c.1508G>A

22 papers

NM_001793.6

p.G277delFs

c.830delG

20 papers

NM_001793.6

p.M327delFs

c.981delG

16 papers

NM_001793.6

p.L168*

c.503T>A

15 papers

NM_001793.6

p.P154delFs

c.462delT

15 papers

NM_001793.6

p.E704delFs

c.2112delG

13 papers

NM_001793.6

p.R221*

c.661C>T

13 papers

NM_001793.6

p.E504K

c.1510G>A

13 papers

NM_001793.6

p.H575R

c.1724A>G

13 papers

NM_001793.6

p.Y615*

c.1845T>G

12 papers

NM_001793.6

p.Y615*

c.1845T>A

11 papers

NM_001793.6

p.G599Splc

c.1796-2A>G