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.P607S

c.1819C>T

Surrounding Variants

1 paper

NM_004360.5

p.N606I

c.1817A>T

4 papers

NM_004360.5

p.R605G

c.1813A>G

1 paper

NM_004360.5

p.R605insFs

c.1813dupA

1 paper

NM_004360.5

p.Q610fs

c.1828_1829fs

1 paper

NM_004360.5

p.Q610E

c.1828C>G

13 papers

NM_004360.5

p.Q610*

c.1828C>T

1 paper

NM_004360.5

p.E604K

c.1810G>A

3 papers

NM_004360.5

p.E604*

c.1810G>T

1 paper

NM_004360.5

p.E604fs

c.1810_1811fs

2 papers

NM_004360.5

p.C603S

c.1808G>C

1 paper

NM_004360.5

p.V611F

c.1831G>T

1 paper

NM_004360.5

p.C603S

c.1807T>A