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

7 papers

NM_004360.5

p.Y827*

c.2481T>G

Surrounding Variants

7 papers

NM_004360.5

p.Y827*

c.2481T>A

1 paper

NM_004360.5

p.D828_L831del4

c.2482_2492del12

1 paper

NM_004360.5

p.D828Y

c.2482G>T

1 paper

NM_004360.5

p.D828V

c.2483A>T

2 papers

NM_004360.5

p.Y827insFs

c.2480dupA

3 papers

NM_004360.5

p.Y827fs

c.2479_2480fs

1 paper

NM_004360.5

p.P826P

c.2478T>A

1 paper

NM_004360.5

p.Y827delFs

c.2479_2480delTA

1 paper

NM_004360.5

p.Y827delFs

c.2479delT

1 paper

NM_004360.5

p.S829A

c.2485T>G

2 papers

NM_004360.5

p.S829fs

c.2485_2486fs

2 papers

NM_004360.5

p.P826fs

c.2476_2477fs