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.L728S

c.2183T>C

Surrounding Variants

1 paper

NM_004360.5

p.L728*

c.2183T>A

1 paper

NM_004360.5

p.L728delins

c.2183_2184delinsAT

1 paper

NM_004360.5

p.L728F

c.2184G>C

1 paper

NM_004360.5

p.L728F

c.2184G>T

1 paper

NM_004360.5

p.L728M

c.2182T>A

1 paper

NM_004360.5

p.L728fs

c.2182_2183fs

1 paper

NM_004360.5

p.L729fs

c.2185_2186fs

1 paper

NM_004360.5

p.L729L

c.2185C>T

2 papers

NM_004360.5

p.L729fs

c.2185_2186fs

3 papers

NM_004360.5

p.L727F

c.2179C>T

1 paper

NM_004360.5

p.L727delFs

c.2180delT

1 paper

NM_004360.5

p.L727fs

c.2179_2180fs