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.L276L

c.828T>C

Surrounding Variants

1 paper

NM_004360.5

p.L276L

c.828T>A

1 paper

NM_004360.5

p.P277delFs

c.830delC

2 papers

NM_004360.5

p.P277fs

c.829_830fs

1 paper

NM_004360.5

p.P277_G278ins10

c.829_833ins30

1 paper

NM_004360.5

p.P277fs

c.829_830fs

1 paper

NM_004360.5

p.L276_P277delFs

c.828_831del4

2 papers

NM_004360.5

p.L276I

c.826C>A

2 papers

NM_004360.5

p.L276F

c.826C>T

1 paper

NM_004360.5

p.L276delFs

c.828delT

23 papers

NM_004360.5

p.G278R

c.832G>A

3 papers

NM_004360.5

p.G278R

c.832G>C

4 papers

NM_004360.5

p.G278*

c.832G>T