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

6 papers

NM_004360.5

p.L711V

c.2131C>G

Surrounding Variants

1 paper

NM_004360.5

p.L711fs

c.2131_2132fs

1 paper

NM_004360.5

p.G712R

c.2134G>C

2 papers

NM_004360.5

p.G712E

c.2135G>A

1 paper

NM_004360.5

p.A709V

c.2126C>T

2 papers

NM_004360.5

p.I713V

c.2137A>G

1 paper

NM_004360.5

p.A709T

c.2125G>A

1 paper

NM_004360.5

p.A709S

c.2125G>T

1 paper

NM_004360.5

p.I713T

c.2138T>C

1 paper

NM_004360.5

p.P708L

c.2123C>T

1 paper

NM_004360.5

p.I713M

c.2139T>G

1 paper

NM_004360.5

p.L714I

c.2140C>A

5 papers

NM_004360.5

p.P708fs

c.2122_2123fs