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.L582L

c.1746G>T

Surrounding Variants

2 papers

NM_004360.5

p.L583M

c.1747C>A

2 papers

NM_004360.5

p.L583fs

c.1747_1748fs

3 papers

NM_004360.5

p.L582insFs

c.1746dupG

1 paper

NM_004360.5

p.L582_L583insFs

c.1746_1747dupGC

1 paper

NM_004360.5

p.L582M

c.1744C>A

3 papers

NM_004360.5

p.L582fs

c.1744_1745fs

1 paper

NM_004360.5

p.L582V

c.1744C>G

2 papers

NM_004360.5

p.L582L

c.1744C>T

2 papers

NM_004360.5

p.L583P

c.1748T>C

11 papers

NM_004360.5

p.L583R

c.1748T>G

1 paper

NM_004360.5

p.L582insFs

c.1744dupC

3 papers

NM_004360.5

p.L583del1

c.1747_1748delCTG