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

20 papers

NM_004360.5

p.D244G

c.731A>G

Surrounding Variants

1 paper

NM_004360.5

p.D244H

c.730G>C

1 paper

NM_004360.5

p.D244fs

c.730_731fs

1 paper

NM_004360.5

p.D244Y

c.730G>T

1 paper

NM_004360.5

p.P245T

c.733C>A

3 papers

NM_004360.5

p.P245S

c.733C>T

1 paper

NM_004360.5

p.E243E

c.729G>A

1 paper

NM_004360.5

p.M246insFs

c.736dupA

4 papers

NM_004360.5

p.P245L

c.734C>T

1 paper

NM_004360.5

p.P245P

c.735A>T

22 papers

NM_004360.5

p.E243K

c.727G>A

2 papers

NM_004360.5

p.E243Q

c.727G>C

1 paper

NM_004360.5

p.E243fs

c.727_728fs