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

4 papers

NM_004360.5

p.V242I

c.724G>A

Surrounding Variants

2 papers

NM_004360.5

p.V242F

c.724G>T

1 paper

NM_004360.5

p.V242delFs

c.726delT

1 paper

NM_004360.5

p.V242_T253del0

c.726_758del33

2 papers

NM_004360.5

p.A241V

c.722C>T

22 papers

NM_004360.5

p.E243K

c.727G>A

1 paper

NM_004360.5

p.A241T

c.721G>A

2 papers

NM_004360.5

p.E243Q

c.727G>C

1 paper

NM_004360.5

p.E243fs

c.727_728fs

4 papers

NM_004360.5

p.E243*

c.727G>T

1 paper

NM_004360.5

p.N240K

c.720T>G

2 papers

NM_004360.5

p.N240S

c.719A>G

4 papers

NM_004360.5

p.N240delFs

c.720delT