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.I722Splc

c.2165-1G>C

Surrounding Variants

1 paper

NM_004360.5

p.I722Splc

c.2165-1G>A

3 papers

NM_004360.5

p.I722Splc

c.2165-1G>T

1 paper

NM_004360.5

p.I722Splc

c.2165-2A>C

1 paper

NM_004360.5

p.I722Splc

c.2165-2A>G

1 paper

NM_004360.5

p.I722Splc

c.2165-2A>T

1 paper

NM_004360.5

p.I722fs

c.2164_2165fs

1 paper

NM_004360.5

p.I722_R733delFs

c.2165_2198del34

1 paper

NM_004360.5

p.L723V

c.2167C>G

1 paper

NM_004360.5

p.L723L

c.2167C>T

1 paper

NM_004360.5

p.I724V

c.2170A>G

1 paper

NM_004360.5

p.L725delFs

c.2173delC

1 paper

NM_004360.5

p.L725fs

c.2173_2174fs