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

1 paper

NM_004360.5

p.P312L

c.935C>T

Surrounding Variants

1 paper

NM_004360.5

p.P312fs

c.934_935fs

1 paper

NM_004360.5

p.P312fs

c.934_935fs

2 papers

NM_004360.5

p.L311L

c.933C>G

1 paper

NM_004360.5

p.D313H

c.937G>C

2 papers

NM_004360.5

p.D313fs

c.937_938fs

1 paper

NM_004360.5

p.D313insFs

c.939dupC

1 paper

NM_004360.5

p.D313G

c.938A>G

1 paper

NM_004360.5

p.D313delFs

c.939delC

1 paper

NM_004360.5

p.L311delFs

c.933delC

1 paper

NM_004360.5

p.D313E

c.939C>A

2 papers

NM_004360.5

p.N315insFs

c.944dupA

3 papers

NM_004360.5

p.L311fs

c.931_932fs