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

11 papers

NM_004360.5

p.T599S

c.1795A>T

Surrounding Variants

1 paper

NM_004360.5

p.T599fs

c.1795_1796fs

2 papers

NM_004360.5

p.T599_I600insGT

c.1795_1799ins6

1 paper

NM_004360.5

p.T599fs

c.1795_1796fs

1 paper

NM_004360.5

p.R598R

c.1794A>G

1 paper

NM_004360.5

p.T599N

c.1796C>A

1 paper

NM_004360.5

p.T599insFs

c.1797dupT

7 papers

NM_004360.5

p.T599S

c.1796C>G

17 papers

NM_004360.5

p.R598Q

c.1793G>A

1 paper

NM_004360.5

p.R598P

c.1793G>C

2 papers

NM_004360.5

p.R598L

c.1793G>T

1 paper

NM_004360.5

p.T599delFs

c.1795delA

1 paper

NM_004360.5

p.I600fs

c.1798_1799fs