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.S840S

c.2520C>T

Surrounding Variants

1 paper

NM_004360.5

p.S840Y

c.2519C>A

4 papers

NM_004360.5

p.E841K

c.2521G>A

1 paper

NM_004360.5

p.E841insFs

c.2523dupA

6 papers

NM_004360.5

p.E841*

c.2521G>T

1 paper

NM_004360.5

p.E841fs

c.2521_2522fs

2 papers

NM_004360.5

p.S840A

c.2518T>G

1 paper

NM_004360.5

p.A842fs

c.2524_2525fs

1 paper

NM_004360.5

p.A842V

c.2525C>T

1 paper

NM_004360.5

p.A842delFs

c.2526delT

3 papers

NM_004360.5

p.G839S

c.2515G>A

1 paper

NM_004360.5

p.S838R

c.2514C>A

1 paper

NM_004360.5

p.S838S

c.2514C>T