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

3 papers

NM_004360.5

p.N117D

c.349A>G

Surrounding Variants

1 paper

NM_004360.5

p.N117fs

c.349_350fs

1 paper

NM_004360.5

p.N117T

c.350A>C

1 paper

NM_004360.5

p.N117S

c.350A>G

1 paper

NM_004360.5

p.L116L

c.348G>A

1 paper

NM_004360.5

p.L116L

c.348G>T

1 paper

NM_004360.5

p.N117delFs

c.349delA

1 paper

NM_004360.5

p.N117K

c.351T>A

1 paper

NM_004360.5

p.L116P

c.347T>C

2 papers

NM_004360.5

p.L116insFs

c.347_348insA

1 paper

NM_004360.5

p.T118S

c.352A>T

1 paper

NM_004360.5

p.T118fs

c.352_353fs

1 paper

NM_004360.5

p.L116M

c.346C>A