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.L669I

c.2005C>A

Surrounding Variants

1 paper

NM_004360.5

p.L669F

c.2005C>T

1 paper

NM_004360.5

p.K668R

c.2003A>G

1 paper

NM_004360.5

p.M670_N674delFs

c.2008_2021del14

3 papers

NM_004360.5

p.K668*

c.2002A>T

1 paper

NM_004360.5

p.M670T

c.2009T>C

1 paper

NM_004360.5

p.L667R

c.2000T>G

1 paper

NM_004360.5

p.L667F

c.1999C>T

3 papers

NM_004360.5

p.L667fs

c.1999_2000fs

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