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.E596K

c.1786G>A

Surrounding Variants

3 papers

NM_004360.5

p.E596*

c.1786G>T

1 paper

NM_004360.5

p.E596G

c.1787A>G

1 paper

NM_004360.5

p.P595R

c.1784C>G

3 papers

NM_004360.5

p.P597T

c.1789C>A

1 paper

NM_004360.5

p.P595insFs

c.1783_1784ins8

1 paper

NM_004360.5

p.P595fs

c.1783_1784fs

1 paper

NM_004360.5

p.P597fs

c.1789_1790fs

1 paper

NM_004360.5

p.P597A

c.1789C>G

2 papers

NM_004360.5

p.P595S

c.1783C>T

1 paper

NM_004360.5

p.P597S

c.1789C>T

1 paper

NM_004360.5

p.P597fs

c.1789_1790fs

1 paper

NM_004360.5

p.I594M

c.1782A>G