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.S270Y

c.809C>A

Surrounding Variants

2 papers

NM_004360.5

p.S270P

c.808T>C

24 papers

NM_004360.5

p.S270A

c.808T>G

1 paper

NM_004360.5

p.S270S

c.810T>G

1 paper

NM_004360.5

p.S270fs

c.808_809fs

1 paper

NM_004360.5

p.V271I

c.811G>A

2 papers

NM_004360.5

p.V271L

c.811G>C

2 papers

NM_004360.5

p.V271fs

c.811_812fs

1 paper

NM_004360.5

p.V271F

c.811G>T

1 paper

NM_004360.5

p.V271Fs

c.811_812delinsTTAAGGGATATAFs

1 paper

NM_004360.5

p.M272_E273del2

c.814_818del6

1 paper

NM_004360.5

p.G269R

c.805G>A

1 paper

NM_004360.5

p.G269W

c.805G>T