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.K816E

c.2446A>G

Surrounding Variants

4 papers

NM_004360.5

p.K816*

c.2446A>T

1 paper

NM_004360.5

p.L815M

c.2443C>A

1 paper

NM_004360.5

p.L815delFs

c.2444delT

1 paper

NM_004360.5

p.L815fs

c.2443_2444fs

1 paper

NM_004360.5

p.A817T

c.2449G>A

1 paper

NM_004360.5

p.A817S

c.2449G>T

9 papers

NM_004360.5

p.A817V

c.2450C>T

1 paper

NM_004360.5

p.N814S

c.2441A>G

2 papers

NM_004360.5

p.A817A

c.2451G>A

1 paper

NM_004360.5

p.N814fs

c.2440_2441fs

1 paper

NM_004360.5

p.A818_D821delFs

c.2453_2463del11

2 papers

NM_004360.5

p.A818V

c.2453C>T