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.S844R

c.2530A>C

Surrounding Variants

1 paper

NM_004360.5

p.S844G

c.2530A>G

1 paper

NM_004360.5

p.S844N

c.2531G>A

1 paper

NM_004360.5

p.S844_L845delFs

c.2532_2533delTC

1 paper

NM_004360.5

p.A843A

c.2529T>A

1 paper

NM_004360.5

p.L845fs

c.2533_2534fs

1 paper

NM_004360.5

p.L845insFs

c.2534dupT

2 papers

NM_004360.5

p.L845V

c.2533C>G

1 paper

NM_004360.5

p.L845P

c.2534T>C

1 paper

NM_004360.5

p.A842V

c.2525C>T

1 paper

NM_004360.5

p.A842delFs

c.2526delT

1 paper

NM_004360.5

p.S846fs

c.2536_2537fs

1 paper

NM_004360.5

p.A842fs

c.2524_2525fs