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.E672D

c.2016A>C

Surrounding Variants

2 papers

NM_001792.5

p.E672D

c.2016A>T

1 paper

NM_001792.5

p.L671delFs

c.2013delA

2 papers

NM_001792.5

p.A673V

c.2018C>T

2 papers

NM_001792.5

p.Y676F

c.2027A>T

3 papers

NM_001792.5

p.Y676C

c.2027A>G

1 paper

NM_001792.5

p.K667*

c.1999A>T

2 papers

NM_001792.5

p.P679A

c.2035C>G

1 paper

NM_001792.5

p.I680T

c.2039T>C

1 paper

NM_001792.5

p.L664P

c.1991T>C

1 paper

NM_001792.5

p.I682M

c.2046C>G

1 paper

NM_001792.5

p.S691L

c.2072C>T

1 paper

NM_001792.5

p.N692S

c.2075A>G