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.C688F

c.2063G>T

Surrounding Variants

2 papers

NM_004360.5

p.C688Y

c.2063G>A

1 paper

NM_004360.5

p.C688S

c.2063G>C

9 papers

NM_004360.5

p.C688*

c.2064T>A

1 paper

NM_004360.5

p.C688S

c.2062T>A

5 papers

NM_004360.5

p.C688fs

c.2062_2063fs

1 paper

NM_004360.5

p.C688fs

c.2062_2063fs

15 papers

NM_004360.5

p.C688_E689delFs

c.2064_2065delTG

1 paper

NM_004360.5

p.D687G

c.2060A>G

1 paper

NM_004360.5

p.E689D

c.2067A>C

1 paper

NM_004360.5

p.E689D

c.2067A>T

1 paper

NM_004360.5

p.G690R

c.2068G>C

2 papers

NM_004360.5

p.C686*

c.2058T>A