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

2 papers

NM_004360.5

p.R43Q

c.128G>A

Surrounding Variants

1 paper

NM_004360.5

p.R43P

c.128G>C

5 papers

NM_004360.5

p.R44_L46del3

c.130_137del9

1 paper

NM_004360.5

p.R43R

c.127C>A

2 papers

NM_004360.5

p.R43fs

c.127_128fs

1 paper

NM_004360.5

p.R43fs

c.127_128fs

1 paper

NM_004360.5

p.R44fs

c.130_131fs

1 paper

NM_004360.5

p.P42H

c.125C>A

2 papers

NM_004360.5

p.P42L

c.125C>T

3 papers

NM_004360.5

p.R44H

c.131G>A

2 papers

NM_004360.5

p.R44P

c.131G>C

3 papers

NM_004360.5

p.R44L

c.131G>T

1 paper

NM_004360.5

p.R44R

c.132C>A