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.G706fs

c.2116_2117fs

Surrounding Variants

4 papers

NM_001793.6

p.G706fs

c.2116_2117fs

1 paper

NM_001793.6

p.G705G

c.2115G>A

15 papers

NM_001793.6

p.E704delFs

c.2112delG

1 paper

NM_001793.6

p.E708*

c.2122G>T

1 paper

NM_001793.6

p.Y701fs

c.2101_2102fs

1 paper

NM_001793.6

p.Y701delFs

c.2102_2103delAT

1 paper

NM_001793.6

p.N697_F699del3

c.2089_2096del9

1 paper

NM_001793.6

p.T694A

c.2080A>G

1 paper

NM_001793.6

p.T694insFs

c.2080_2081insA

1 paper

NM_001793.6

p.Q711_D712Splc

c.2133+31G>A

1 paper

NM_001793.6

p.P686A

c.2056C>G

1 paper

NM_001793.6

p.R681Q

c.2042G>A