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.L585_N591delFs

c.1753_1771del19

Surrounding Variants

1 paper

NM_004360.5

p.L585fs

c.1753_1754fs

1 paper

NM_004360.5

p.I584L

c.1750A>C

2 papers

NM_004360.5

p.L583P

c.1748T>C

11 papers

NM_004360.5

p.L583R

c.1748T>G

2 papers

NM_004360.5

p.L583M

c.1747C>A

1 paper

NM_004360.5

p.S586insFs

c.1758dupT

1 paper

NM_004360.5

p.S586F

c.1757C>T

2 papers

NM_004360.5

p.L583fs

c.1747_1748fs

1 paper

NM_004360.5

p.L582L

c.1746G>T

2 papers

NM_004360.5

p.D587H

c.1759G>C

1 paper

NM_004360.5

p.D587fs

c.1759_1760fs

1 paper

NM_004360.5

p.D587Y

c.1759G>T