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.V77M

c.229G>A

Surrounding Variants

1 paper

NM_004360.5

p.V77L

c.229G>C

1 paper

NM_004360.5

p.V77L

c.229G>T

1 paper

NM_004360.5

p.K76N

c.228A>T

1 paper

NM_004360.5

p.V77_D80del0

c.231_239del9

1 paper

NM_004360.5

p.G78insFs

c.232_233insAA

1 paper

NM_004360.5

p.G78_T79insC

c.232_236ins3

2 papers

NM_004360.5

p.G78C

c.232G>T

4 papers

NM_004360.5

p.F75L

c.225C>A

5 papers

NM_004360.5

p.F75L

c.225C>G

4 papers

NM_004360.5

p.G78D

c.233G>A

2 papers

NM_004360.5

p.G78V

c.233G>T

1 paper

NM_004360.5

p.G78_D80del0

c.234_239del6