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.P127R

c.380C>G

Surrounding Variants

1 paper

NM_004360.5

p.P127L

c.380C>T

6 papers

NM_004360.5

p.P127fs

c.379_380fs

1 paper

NM_004360.5

p.P127P

c.381C>G

3 papers

NM_004360.5

p.P127fs

c.379_380fs

1 paper

NM_004360.5

p.H128Y

c.382C>T

2 papers

NM_004360.5

p.H128fs

c.382_383fs

1 paper

NM_004360.5

p.P127insFs

c.379_380insC

15 papers

NM_004360.5

p.H128delFs

c.382delC

1 paper

NM_004360.5

p.H128P

c.383A>C

2 papers

NM_004360.5

p.P126Q

c.377C>A

3 papers

NM_004360.5

p.P126L

c.377C>T

8 papers

NM_004360.5

p.P126fs

c.376_377fs