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.T198S

c.592A>T

Surrounding Variants

1 paper

NM_001792.5

p.S196R

c.588T>A

1 paper

NM_001792.5

p.S196T

c.587G>C

1 paper

NM_001792.5

p.A202D

c.605C>A

1 paper

NM_001792.5

p.D203D

c.609C>T

1 paper

NM_001792.5

p.S192A

c.574T>G

2 papers

NM_001792.5

p.P205L

c.614C>T

1 paper

NM_001792.5

p.N190insFs

c.569_570insA

1 paper

NM_001792.5

p.K189I

c.566A>T

1 paper

NM_001792.5

p.T207N

c.620C>A

1 paper

NM_001792.5

p.I209F

c.625A>T

1 paper

NM_001792.5

p.S185F

c.554C>T

1 paper

NM_001792.5

p.S216L

c.647C>T