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.E310A

c.929A>C

Surrounding Variants

1 paper

NM_004360.5

p.E310K

c.928G>A

1 paper

NM_004360.5

p.E310E

c.930G>A

1 paper

NM_004360.5

p.E310insFs

c.929dupA

3 papers

NM_004360.5

p.L311fs

c.931_932fs

2 papers

NM_004360.5

p.L311F

c.931C>T

1 paper

NM_004360.5

p.E310_T318del9

c.928_953del27

4 papers

NM_004360.5

p.P309L

c.926C>T

1 paper

NM_004360.5

p.L311delFs

c.933delC

1 paper

NM_004360.5

p.P309fs

c.925_926fs

2 papers

NM_004360.5

p.L311L

c.933C>G

3 papers

NM_004360.5

p.P309S

c.925C>T

1 paper

NM_004360.5

p.P312fs

c.934_935fs