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.D72fs

c.214_215fs

Surrounding Variants

7 papers

NM_004360.5

p.D72N

c.214G>A

1 paper

NM_004360.5

p.D72A

c.215A>C

1 paper

NM_004360.5

p.D72V

c.215A>T

1 paper

NM_004360.5

p.D72Fs

c.214_216delinsGGFs

1 paper

NM_004360.5

p.L71_D72insFs

c.213_214insT

2 papers

NM_004360.5

p.L71L

c.213C>T

1 paper

NM_004360.5

p.D72D

c.216C>T

1 paper

NM_004360.5

p.R74insFs

c.220dupC

5 papers

NM_004360.5

p.L71F

c.211C>T

1 paper

NM_004360.5

p.L71fs

c.211_212fs

1 paper

NM_004360.5

p.S70Y

c.209C>A

6 papers

NM_004360.5

p.S70F

c.209C>T