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.F317Y

c.950T>A

Surrounding Variants

2 papers

NM_004360.5

p.F317L

c.951C>A

2 papers

NM_004360.5

p.F317L

c.951C>G

2 papers

NM_004360.5

p.F317L

c.949T>C

1 paper

NM_004360.5

p.T318S

c.952A>T

1 paper

NM_004360.5

p.T318_N320del0

c.954_959del6

3 papers

NM_004360.5

p.M316V

c.946A>G

1 paper

NM_004360.5

p.M316fs

c.946_947fs

1 paper

NM_004360.5

p.M316_F317del1

c.948_950delGTT

1 paper

NM_004360.5

p.I319F

c.955A>T

1 paper

NM_004360.5

p.M316_F317del2

c.946_950del6

3 papers

NM_004360.5

p.N315S

c.944A>G

1 paper

NM_004360.5

p.N315insFs

c.943_944insAT