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.R48S

c.144A>C

Surrounding Variants

2 papers

NM_004360.5

p.R48S

c.144A>T

1 paper

NM_004360.5

p.G49delFs

c.145_146delGG

2 papers

NM_004360.5

p.G49S

c.145G>A

1 paper

NM_004360.5

p.R48K

c.143G>A

2 papers

NM_004360.5

p.G49R

c.145G>C

1 paper

NM_004360.5

p.R50fs

c.148_149fs

3 papers

NM_004360.5

p.R50H

c.149G>A

3 papers

NM_004360.5

p.E47*

c.139G>T

1 paper

NM_004360.5

p.R50R

c.150C>A

2 papers

NM_004360.5

p.V51I

c.151G>A

3 papers

NM_004360.5

p.L46fs

c.136_137fs

1 paper

NM_004360.5

p.L46_E47insTGC

c.136_140ins9