Varaico: Literature-Extracted Genetic Variants

CDH1

2,725 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

Cadherin_proaa 27–116UCSCCadherin prodomain like

Cadherinaa 159–253UCSCCadherin domain

Cadherinaa 267–366UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 1

HGNC Previous Symbol

UVO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004360.5

p.Q255P

c.764A>C

Surrounding Variants

1 paper

NM_004360.5

p.Q255R

c.764A>G

2 papers

NM_004360.5

p.Q255L

c.764A>T

1 paper

NM_004360.5

p.Q255K

c.763C>A

1 paper

NM_004360.5

p.Q255fs

c.763_764fs

10 papers

NM_004360.5

p.Q255*

c.763C>T

1 paper

NM_004360.5

p.Q255Q

c.765G>A

2 papers

NM_004360.5

p.Q255H

c.765G>C

1 paper

NM_004360.5

p.N256insFs

c.766_767insA

1 paper

NM_004360.5

p.N256H

c.766A>C

1 paper

NM_004360.5

p.N256Y

c.766A>T

5 papers

NM_004360.5

p.D254E

c.762T>A

5 papers

NM_004360.5

p.D254E

c.762T>G