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.F75S

c.224T>C

Surrounding Variants

4 papers

NM_004360.5

p.F75L

c.225C>A

5 papers

NM_004360.5

p.F75L

c.225C>G

5 papers

NM_004360.5

p.F75L

c.223T>C

1 paper

NM_004360.5

p.F75_G81delFs

c.225_243del19

1 paper

NM_004360.5

p.F75delFs

c.224delT

4 papers

NM_004360.5

p.R74Q

c.221G>A

1 paper

NM_004360.5

p.K76N

c.228A>T

1 paper

NM_004360.5

p.R74insFs

c.221dupG

2 papers

NM_004360.5

p.R74fs

c.220_221fs

1 paper

NM_004360.5

p.R74_F75insG

c.220_224ins3

25 papers

NM_004360.5

p.R74*

c.220C>T

1 paper

NM_004360.5

p.V77M

c.229G>A