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.V678G

c.2033T>G

Surrounding Variants

1 paper

NM_004360.5

p.V678M

c.2032G>A

3 papers

NM_004360.5

p.V678fs

c.2032_2033fs

1 paper

NM_004360.5

p.T679fs

c.2035_2036fs

1 paper

NM_004360.5

p.T679fs

c.2035_2036fs

2 papers

NM_004360.5

p.Q677R

c.2030A>G

1 paper

NM_004360.5

p.T679_T680insFs

c.2037_2038ins8

1 paper

NM_004360.5

p.T680_L681insFs

c.2038_2041dup4

2 papers

NM_004360.5

p.Q677fs

c.2029_2030fs

4 papers

NM_004360.5

p.Q677*

c.2029C>T

1 paper

NM_004360.5

p.Q677fs

c.2029_2030fs

2 papers

NM_004360.5

p.T680A

c.2038A>G

1 paper

NM_004360.5

p.T680fs

c.2038_2039fs