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

2 papers

NM_004360.5

p.Q673K

c.2017C>A

Surrounding Variants

3 papers

NM_004360.5

p.Q673*

c.2017C>T

1 paper

NM_004360.5

p.Q673Fs

c.2018_2019delinsGFs

1 paper

NM_004360.5

p.Q673fs

c.2017_2018fs

3 papers

NM_004360.5

p.N674Y

c.2020A>T

1 paper

NM_004360.5

p.D671A

c.2012A>C

1 paper

NM_004360.5

p.K675fs

c.2023_2024fs

1 paper

NM_004360.5

p.K675fs

c.2023_2024fs

1 paper

NM_004360.5

p.D671N

c.2011G>A

1 paper

NM_004360.5

p.D671H

c.2011G>C

1 paper

NM_004360.5

p.D671Y

c.2011G>T

1 paper

NM_004360.5

p.D671_K675del0

c.2013_2024del12

1 paper

NM_004360.5

p.K675R

c.2024A>G