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

5 papers

NM_004360.5

p.E336_S337Splc

c.1009-1G>A

Surrounding Variants

1 paper

NM_004360.5

p.E336_S337Splc

c.1009-1G>C

1 paper

NM_004360.5

p.E336_S337Splc

c.1009-1G>T

1 paper

NM_004360.5

p.S337fs

c.1009_1010fs

1 paper

NM_004360.5

p.E336_S337Splc

c.1009-2A>C

1 paper

NM_004360.5

p.S337R

c.1009A>C

7 papers

NM_004360.5

p.E336_S337Splc

c.1009-2A>G

1 paper

NM_004360.5

p.E336_S337Splc

c.1009-2A>T

5 papers

NM_004360.5

p.S337fs

c.1009_1010fs

4 papers

NM_004360.5

p.S337delFs

c.1009_1010delAG

3 papers

NM_004360.5

p.S337N

c.1010G>A

1 paper

NM_004360.5

p.S337T

c.1010G>C

1 paper

NM_004360.5

p.S337insFs

c.1010_1011insA