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.L305F

c.913C>T

Surrounding Variants

1 paper

NM_004360.5

p.L305I

c.913C>A

1 paper

NM_004360.5

p.L305P

c.914T>C

3 papers

NM_004360.5

p.S306G

c.916A>G

1 paper

NM_004360.5

p.S306_L311delins

c.916_931delinsGGAGCTTGGGCATCAA

1 paper

NM_004360.5

p.I304fs

c.910_911fs

1 paper

NM_004360.5

p.S306T

c.917G>C

1 paper

NM_004360.5

p.S306I

c.917G>T

1 paper

NM_004360.5

p.T303N

c.908C>A

2 papers

NM_004360.5

p.T303S

c.908C>G

3 papers

NM_004360.5

p.S306S

c.918C>T

1 paper

NM_004360.5

p.T303I

c.908C>T

1 paper

NM_004360.5

p.T303fs

c.907_908fs