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

8 papers

NM_004360.5

p.R796Q

c.2387G>A

Surrounding Variants

1 paper

NM_004360.5

p.R796insFs

c.2387_2388insC

2 papers

NM_004360.5

p.R796fs

c.2386_2387fs

4 papers

NM_004360.5

p.R796fs

c.2386_2387fs

1 paper

NM_004360.5

p.Y797N

c.2389T>A

1 paper

NM_004360.5

p.Y797Fs

c.2389_2390delinsGFs

1 paper

NM_004360.5

p.Y797delFs

c.2390delA

3 papers

NM_004360.5

p.Y797fs

c.2389_2390fs

4 papers

NM_004360.5

p.Y797C

c.2390A>G

1 paper

NM_004360.5

p.R796_A802delFs

c.2387_2406del20

1 paper

NM_004360.5

p.P795T

c.2383C>A

1 paper

NM_004360.5

p.P795A

c.2383C>G

1 paper

NM_004360.5

p.Y797*

c.2391T>A