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.S306T

c.917G>C

Surrounding Variants

1 paper

NM_004360.5

p.S306I

c.917G>T

3 papers

NM_004360.5

p.S306G

c.916A>G

1 paper

NM_004360.5

p.S306_L311delins

c.916_931delinsGGAGCTTGGGCATCAA

3 papers

NM_004360.5

p.S306S

c.918C>T

2 papers

NM_004360.5

p.Q307*

c.919C>T

1 paper

NM_004360.5

p.Q307fs

c.919_920fs

1 paper

NM_004360.5

p.L305P

c.914T>C

1 paper

NM_004360.5

p.Q307Q

c.921A>G

1 paper

NM_004360.5

p.L305I

c.913C>A

1 paper

NM_004360.5

p.L305F

c.913C>T

1 paper

NM_004360.5

p.D308N

c.922G>A

1 paper

NM_004360.5

p.D308fs

c.922_923fs