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.R44R

c.132C>T

Surrounding Variants

1 paper

NM_004360.5

p.R44R

c.132C>A

1 paper

NM_004360.5

p.R44_H45insFs

c.132_133insA

1 paper

NM_004360.5

p.R44R

c.132C>G

1 paper

NM_004360.5

p.H45insFs

c.133_134insA

2 papers

NM_004360.5

p.H45fs

c.133_134fs

3 papers

NM_004360.5

p.H45_L46insT

c.133_137ins3

3 papers

NM_004360.5

p.R44H

c.131G>A

2 papers

NM_004360.5

p.R44P

c.131G>C

3 papers

NM_004360.5

p.R44L

c.131G>T

1 paper

NM_004360.5

p.H45delFs

c.135delC

1 paper

NM_004360.5

p.L46_R50del5

c.136_149del15

1 paper

NM_004360.5

p.R44fs

c.130_131fs