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.H233L

c.698A>T

Surrounding Variants

3 papers

NM_004360.5

p.H233Q

c.699C>A

1 paper

NM_004360.5

p.H233N

c.697C>A

1 paper

NM_004360.5

p.H233insFs

c.697_698insA

3 papers

NM_004360.5

p.H233fs

c.697_698fs

4 papers

NM_004360.5

p.H233Q

c.699C>G

1 paper

NM_004360.5

p.H233D

c.697C>G

4 papers

NM_004360.5

p.H233delins

c.697_698delinsTA

2 papers

NM_004360.5

p.H233H

c.699C>T

2 papers

NM_004360.5

p.H233fs

c.697_698fs

1 paper

NM_004360.5

p.A234_G239del6

c.700_716del18

1 paper

NM_004360.5

p.A234P

c.700G>C

1 paper

NM_004360.5

p.A234fs

c.700_701fs