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

60 papers

NM_004360.5

p.A617T

c.1849G>A

Surrounding Variants

1 paper

NM_004360.5

p.A617fs

c.1849_1850fs

1 paper

NM_004360.5

p.D618H

c.1852G>C

1 paper

NM_004360.5

p.D618G

c.1853A>G

1 paper

NM_004360.5

p.D618Fs

c.1853delinsTTCTTFs

1 paper

NM_004360.5

p.I615L

c.1843A>C

1 paper

NM_004360.5

p.I615delFs

c.1844delT

1 paper

NM_004360.5

p.I615fs

c.1843_1844fs

1 paper

NM_004360.5

p.L619F

c.1855C>T

1 paper

NM_004360.5

p.I615_D616del2

c.1843_1847del6

1 paper

NM_004360.5

p.L619R

c.1856T>G

1 paper

NM_004360.5

p.P620delFs

c.1858delC

2 papers

NM_004360.5

p.I614V

c.1840A>G