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.R696K

c.2087G>A

Surrounding Variants

1 paper

NM_004360.5

p.R696fs

c.2086_2087fs

1 paper

NM_004360.5

p.K697delFs

c.2089delA

1 paper

NM_004360.5

p.K697fs

c.2089_2090fs

1 paper

NM_004360.5

p.K697_A698insA

c.2089_2093ins3

1 paper

NM_004360.5

p.R696_K697del2

c.2086_2090del6

1 paper

NM_004360.5

p.C695Y

c.2084G>A

1 paper

NM_004360.5

p.C695S

c.2084G>C

1 paper

NM_004360.5

p.K697K

c.2091G>A

1 paper

NM_004360.5

p.K697N

c.2091G>C

1 paper

NM_004360.5

p.K697N

c.2091G>T

1 paper

NM_004360.5

p.C695S

c.2083T>A

1 paper

NM_004360.5

p.C695R

c.2083T>C