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.L630fs

c.1888_1889fs

Surrounding Variants

1 paper

NM_004360.5

p.L630fs

c.1888_1889fs

37 papers

NM_004360.5

p.L630V

c.1888C>G

1 paper

NM_004360.5

p.E629D

c.1887A>T

1 paper

NM_004360.5

p.E629G

c.1886A>G

1 paper

NM_004360.5

p.E629V

c.1886A>T

4 papers

NM_004360.5

p.H632delFs

c.1895_1896delAC

1 paper

NM_004360.5

p.T631insFs

c.1891_1892insAC

1 paper

NM_004360.5

p.E629K

c.1885G>A

2 papers

NM_004360.5

p.E629insFs

c.1885_1886insA

2 papers

NM_004360.5

p.T631_H632insFs

c.1893_1894insA

1 paper

NM_004360.5

p.T631I

c.1892C>T

1 paper

NM_004360.5

p.T631T

c.1893A>C