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.P593delFs

c.1779delC

Surrounding Variants

84 papers

NM_004360.5

p.A592T

c.1774G>A

1 paper

NM_004360.5

p.A592P

c.1774G>C

15 papers

NM_004360.5

p.P593_I594insFs

c.1779_1780insC

3 papers

NM_004360.5

p.A592fs

c.1774_1775fs

2 papers

NM_004360.5

p.A592_P593insAC

c.1774_1778ins6

8 papers

NM_004360.5

p.A592S

c.1774G>T

1 paper

NM_004360.5

p.N591N

c.1773C>T

1 paper

NM_004360.5

p.A592_I594delFs

c.1776_1780del5

1 paper

NM_004360.5

p.N591T

c.1772A>C

1 paper

NM_004360.5

p.N591S

c.1772A>G

1 paper

NM_004360.5

p.N591fs

c.1771_1772fs

1 paper

NM_004360.5

p.P593T

c.1777C>A