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.D747_Y753del0

c.2240_2257del18

Surrounding Variants

1 paper

NM_004360.5

p.D747_N751del0

c.2239_2253del15

1 paper

NM_004360.5

p.T748fs

c.2242_2243fs

1 paper

NM_004360.5

p.T748A

c.2242A>G

1 paper

NM_004360.5

p.T748S

c.2242A>T

1 paper

NM_004360.5

p.T748_R749delFs

c.2244_2245delCC

1 paper

NM_004360.5

p.T748fs

c.2242_2243fs

1 paper

NM_004360.5

p.D746N

c.2236G>A

1 paper

NM_004360.5

p.D746fs

c.2236_2237fs

1 paper

NM_004360.5

p.D746_T748delFs

c.2238_2242del5

2 papers

NM_004360.5

p.T748N

c.2243C>A

1 paper

NM_004360.5

p.T748S

c.2243C>G

1 paper

NM_004360.5

p.T748I

c.2243C>T