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.C22Fs

c.65delinsCGTFs

Surrounding Variants

1 paper

NM_004360.5

p.C22delFs

c.66delC

5 papers

NM_004360.5

p.L21L

c.63C>A

1 paper

NM_004360.5

p.Q23K

c.67C>A

1 paper

NM_004360.5

p.Q23fs

c.67_68fs

46 papers

NM_004360.5

p.Q23*

c.67C>T

7 papers

NM_004360.5

p.Q23delFs

c.68_69delAG

1 paper

NM_004360.5

p.Q23_E24delFs

c.68_71del4

1 paper

NM_004360.5

p.Q23R

c.68A>G

1 paper

NM_004360.5

p.Q23L

c.68A>T

1 paper

NM_004360.5

p.L21P

c.62T>C

4 papers

NM_004360.5

p.L21_C22insFs

c.63_64ins13

1 paper

NM_004360.5

p.L21delins

c.63delinsCGTGCCCCAGCCC