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.P645_T646Fs

c.1935_1936delinsCFs

Surrounding Variants

1 paper

NM_004360.5

p.P645R

c.1934C>G

1 paper

NM_004360.5

p.P645fs

c.1933_1934fs

1 paper

NM_004360.5

p.T646Splc

c.1936+1G>A

1 paper

NM_004360.5

p.T646Splc

c.1936+1G>C

2 papers

NM_004360.5

p.T646Splc

c.1936+1G>T

1 paper

NM_004360.5

p.T646Splc

c.1936+3G>A

8 papers

NM_004360.5

p.D644N

c.1930G>A

1 paper

NM_004360.5

p.N643N

c.1929C>T

2 papers

NM_004360.5

p.T646Splc

c.1936+5G>A

1 paper

NM_004360.5

p.N643S

c.1928A>G

1 paper

NM_004360.5

p.N643D

c.1927A>G

3 papers

NM_004360.5

p.Y642*

c.1926C>A