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.P740delFs

c.2218delC

Surrounding Variants

1 paper

NM_004360.5

p.E739V

c.2216A>T

4 papers

NM_004360.5

p.P740S

c.2218C>T

1 paper

NM_004360.5

p.P740H

c.2219C>A

1 paper

NM_004360.5

p.P740L

c.2219C>T

1 paper

NM_004360.5

p.E739_P740insT

c.2215_2219ins3

1 paper

NM_004360.5

p.E739*

c.2215G>T

2 papers

NM_004360.5

p.E739fs

c.2215_2216fs

1 paper

NM_004360.5

p.L741insFs

c.2222dupT

2 papers

NM_004360.5

p.K738R

c.2213A>G

1 paper

NM_004360.5

p.L741fs

c.2221_2222fs

1 paper

NM_004360.5

p.K738insFs

c.2212_2213insC

1 paper

NM_004360.5

p.K738E

c.2212A>G