Varaico: Literature-Extracted Genetic Variants

CDH2

500 papers

RefSeq Summary

This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolyti...

Pfam Domains

Cadherin_proaa 31–121UCSCCadherin prodomain like

Cadherinaa 164–258UCSCCadherin domain

Cadherinaa 273–373UCSCCadherin domain

Cadherinaa 387–489UCSCCadherin domain

Cadherinaa 502–596UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 2

HGNC Previous Symbol

NCAD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001792.5

p.R232W

c.694C>T

Surrounding Variants

1 paper

NM_001792.5

p.F233C

c.698T>G

10 papers

NM_001792.5

p.Q229P

c.686A>C

1 paper

NM_001792.5

p.H234_L235Splc

c.702+1G>A

1 paper

NM_001792.5

p.H234_L235Splc

c.702+2T>C

1 paper

NM_001792.5

p.D226Y

c.676G>T

1 paper

NM_001792.5

p.D226N

c.676G>A

1 paper

NM_001792.5

p.P224L

c.671C>T

1 paper

NM_001792.5

p.T222S

c.664A>T

1 paper

NM_001792.5

p.S220S

c.660G>A

2 papers

NM_001792.5

p.S220L

c.659C>T

1 paper

NM_001792.5

p.Q218*

c.652C>T

1 paper

NM_001792.5

p.G217R

c.649G>C