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.Q129insFs

c.386dupA

Surrounding Variants

11 papers

NM_004360.5

p.Q129*

c.385C>T

1 paper

NM_004360.5

p.Q129P

c.386A>C

1 paper

NM_004360.5

p.H128P

c.383A>C

4 papers

NM_004360.5

p.Q129H

c.387G>C

1 paper

NM_004360.5

p.Q129_A130insFs

c.387_388insC

4 papers

NM_004360.5

p.Q129H

c.387G>T

1 paper

NM_004360.5

p.H128Y

c.382C>T

2 papers

NM_004360.5

p.H128fs

c.382_383fs

6 papers

NM_004360.5

p.Q129_A130Splc

c.387+1G>A

1 paper

NM_004360.5

p.P127P

c.381C>G

1 paper

NM_004360.5

p.Q129_A130Splc

c.387+3A>T

1 paper

NM_004360.5

p.P127R

c.380C>G