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

2 papers

NM_004360.5

p.S232_H233delFs

c.696_697delTC

Surrounding Variants

2 papers

NM_004360.5

p.F231fs

c.691_692fs

1 paper

NM_004360.5

p.F231insFs

c.692_693insT

1 paper

NM_004360.5

p.L230L

c.690C>T

1 paper

NM_004360.5

p.F231_G239del9

c.691_716del27

1 paper

NM_004360.5

p.F231S

c.692T>C

1 paper

NM_004360.5

p.F231delFs

c.693delC

1 paper

NM_004360.5

p.F231_S232insFs

c.693_694insG

1 paper

NM_004360.5

p.L230H

c.689T>A

1 paper

NM_004360.5

p.L230P

c.689T>C

2 papers

NM_004360.5

p.L230R

c.689T>G

1 paper

NM_004360.5

p.F231_A234delFs

c.692_702del11

2 papers

NM_004360.5

p.L230fs

c.688_689fs