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

2 papers

NM_004360.5

p.F375L

c.1123T>C

Surrounding Variants

1 paper

NM_004360.5

p.F375V

c.1123T>G

1 paper

NM_004360.5

p.F375_N376insGTC

c.1123_1127ins9

2 papers

NM_004360.5

p.F375fs

c.1123_1124fs

1 paper

NM_004360.5

p.F375delFs

c.1124delT

2 papers

NM_004360.5

p.F375L

c.1125C>A

2 papers

NM_004360.5

p.F375L

c.1125C>G

1 paper

NM_004360.5

p.N376delFs

c.1127delA

1 paper

NM_004360.5

p.N376fs

c.1126_1127fs

1 paper

NM_004360.5

p.N376_P377insFs

c.1128_1131dup4

1 paper

NM_004360.5

p.N376S

c.1127A>G

6 papers

NM_004360.5

p.P373R

c.1118C>G

55 papers

NM_004360.5

p.P373L

c.1118C>T