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.D750H

c.2248G>C

Surrounding Variants

3 papers

NM_004360.5

p.D750N

c.2248G>A

1 paper

NM_004360.5

p.D750fs

c.2248_2249fs

1 paper

NM_004360.5

p.D750insFs

c.2248_2249dupGA

3 papers

NM_004360.5

p.R749Q

c.2246G>A

1 paper

NM_004360.5

p.R749L

c.2246G>T

32 papers

NM_004360.5

p.R749W

c.2245C>T

2 papers

NM_004360.5

p.T748N

c.2243C>A

2 papers

NM_004360.5

p.N751K

c.2253C>A

1 paper

NM_004360.5

p.T748S

c.2243C>G

1 paper

NM_004360.5

p.N751K

c.2253C>G

39 papers

NM_004360.5

p.N751N

c.2253C>T

1 paper

NM_004360.5

p.T748I

c.2243C>T