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.S236S

c.708A>C

Surrounding Variants

5 papers

NM_004360.5

p.S236*

c.707C>A

3 papers

NM_004360.5

p.S236*

c.707C>G

1 paper

NM_004360.5

p.S236_V242del0

c.707_724del18

1 paper

NM_004360.5

p.N238fs

c.712_713fs

2 papers

NM_004360.5

p.N238H

c.712A>C

4 papers

NM_004360.5

p.N238D

c.712A>G

1 paper

NM_004360.5

p.V235E

c.704T>A

1 paper

NM_004360.5

p.V235delFs

c.705delG

1 paper

NM_004360.5

p.N238S

c.713A>G

2 papers

NM_004360.5

p.V235M

c.703G>A

2 papers

NM_004360.5

p.V235L

c.703G>C

1 paper

NM_004360.5

p.V235fs

c.703_704fs