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

17 papers

NM_004360.5

p.Q641*

c.1921C>T

Surrounding Variants

1 paper

NM_004360.5

p.I640fs

c.1918_1919fs

1 paper

NM_004360.5

p.Y642C

c.1925A>G

1 paper

NM_004360.5

p.Y642F

c.1925A>T

3 papers

NM_004360.5

p.Y642*

c.1926C>A

3 papers

NM_004360.5

p.Y642*

c.1926C>G

2 papers

NM_004360.5

p.T639_I640delFs

c.1917_1918delCA

1 paper

NM_004360.5

p.N643D

c.1927A>G

1 paper

NM_004360.5

p.N643S

c.1928A>G

15 papers

NM_004360.5

p.W638*

c.1914G>A

1 paper

NM_004360.5

p.W638C

c.1914G>C

1 paper

NM_004360.5

p.W638C

c.1914G>T

1 paper

NM_004360.5

p.N643N

c.1929C>T