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

4 papers

NM_004360.5

p.P245L

c.734C>T

Surrounding Variants

1 paper

NM_004360.5

p.M246insFs

c.736dupA

1 paper

NM_004360.5

p.P245P

c.735A>T

1 paper

NM_004360.5

p.P245T

c.733C>A

3 papers

NM_004360.5

p.P245S

c.733C>T

3 papers

NM_004360.5

p.M246V

c.736A>G

1 paper

NM_004360.5

p.M246L

c.736A>T

20 papers

NM_004360.5

p.D244G

c.731A>G

2 papers

NM_004360.5

p.M246R

c.737T>G

2 papers

NM_004360.5

p.M246I

c.738G>A

2 papers

NM_004360.5

p.M246I

c.738G>C

1 paper

NM_004360.5

p.D244H

c.730G>C

1 paper

NM_004360.5

p.D244fs

c.730_731fs