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.L249F

c.747G>C

Surrounding Variants

1 paper

NM_004360.5

p.L249L

c.747G>A

3 papers

NM_004360.5

p.L249F

c.747G>T

1 paper

NM_004360.5

p.I250V

c.748A>G

1 paper

NM_004360.5

p.L249*

c.746T>A

3 papers

NM_004360.5

p.I250N

c.749T>A

1 paper

NM_004360.5

p.I250T

c.749T>C

1 paper

NM_004360.5

p.I250S

c.749T>G

1 paper

NM_004360.5

p.I250delFs

c.750delC

1 paper

NM_004360.5

p.I250I

c.750C>T

1 paper

NM_004360.5

p.T251fs

c.751_752fs

2 papers

NM_004360.5

p.T251S

c.751A>T

1 paper

NM_004360.5

p.I248N

c.743T>A