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.E806G

c.2417A>G

Surrounding Variants

4 papers

NM_004360.5

p.E806K

c.2416G>A

5 papers

NM_004360.5

p.E806*

c.2416G>T

1 paper

NM_004360.5

p.I807fs

c.2419_2420fs

1 paper

NM_004360.5

p.D805D

c.2415T>C

1 paper

NM_004360.5

p.D805V

c.2414A>T

26 papers

NM_004360.5

p.D805N

c.2413G>A

2 papers

NM_004360.5

p.G808R

c.2422G>A

1 paper

NM_004360.5

p.G808R

c.2422G>C

1 paper

NM_004360.5

p.G808*

c.2422G>T

1 paper

NM_004360.5

p.P804L

c.2411C>T

1 paper

NM_004360.5

p.P804A

c.2410C>G

2 papers

NM_004360.5

p.N809fs

c.2425_2426fs