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

3 papers

NM_004360.5

p.G715*

c.2143G>T

Surrounding Variants

3 papers

NM_004360.5

p.G715R

c.2143G>A

1 paper

NM_004360.5

p.G715R

c.2143G>C

2 papers

NM_004360.5

p.G715fs

c.2143_2144fs

1 paper

NM_004360.5

p.G715fs

c.2143_2144fs

2 papers

NM_004360.5

p.G715E

c.2144G>A

2 papers

NM_004360.5

p.G715delFs

c.2144delG

1 paper

NM_004360.5

p.L714I

c.2140C>A

1 paper

NM_004360.5

p.L714fs

c.2140_2141fs

1 paper

NM_004360.5

p.L714F

c.2140C>T

4 papers

NM_004360.5

p.G716R

c.2146G>A

1 paper

NM_004360.5

p.G716R

c.2146G>C

1 paper

NM_004360.5

p.G716fs

c.2146_2147fs