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.L667fs

c.1999_2000fs

Surrounding Variants

1 paper

NM_004360.5

p.L667F

c.1999C>T

1 paper

NM_004360.5

p.L667R

c.2000T>G

4 papers

NM_004360.5

p.L667delFs

c.1999delC

1 paper

NM_004360.5

p.L667_D676del10

c.1999_2027del30

1 paper

NM_004360.5

p.N666S

c.1997A>G

2 papers

NM_004360.5

p.N666fs

c.1996_1997fs

2 papers

NM_004360.5

p.N666H

c.1996A>C

3 papers

NM_004360.5

p.K668*

c.2002A>T

1 paper

NM_004360.5

p.N666Y

c.1996A>T

1 paper

NM_004360.5

p.K668R

c.2003A>G

1 paper

NM_004360.5

p.I665I

c.1995C>A

2 papers

NM_004360.5

p.I665fs

c.1993_1994fs