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.V293E

c.878T>A

Surrounding Variants

1 paper

NM_004360.5

p.V293_T303delFs

c.879_907del29

1 paper

NM_004360.5

p.V293V

c.879G>C

1 paper

NM_004360.5

p.V293_N294ins1

c.879_880insTCA

1 paper

NM_004360.5

p.V293L

c.877G>T

1 paper

NM_004360.5

p.N294D

c.880A>G

1 paper

NM_004360.5

p.N294_Y296insFs

c.882_886dup5

2 papers

NM_004360.5

p.N294S

c.881A>G

1 paper

NM_004360.5

p.D292G

c.875A>G

1 paper

NM_004360.5

p.N294N

c.882C>T

2 papers

NM_004360.5

p.D292N

c.874G>A

1 paper

NM_004360.5

p.D292fs

c.874_875fs

1 paper

NM_004360.5

p.T295S

c.883A>T