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

2 papers

NM_004360.5

p.L581fs

c.1741_1742fs

Surrounding Variants

1 paper

NM_004360.5

p.L581delFs

c.1742_1743delTT

5 papers

NM_004360.5

p.L581P

c.1742T>C

1 paper

NM_004360.5

p.L581R

c.1742T>G

1 paper

NM_004360.5

p.T580K

c.1739C>A

1 paper

NM_004360.5

p.T580I

c.1739C>T

1 paper

NM_004360.5

p.L582insFs

c.1744dupC

3 papers

NM_004360.5

p.L583del1

c.1747_1748delCTG

1 paper

NM_004360.5

p.T580A

c.1738A>G

1 paper

NM_004360.5

p.T580S

c.1738A>T

1 paper

NM_004360.5

p.L582M

c.1744C>A

3 papers

NM_004360.5

p.L582fs

c.1744_1745fs

1 paper

NM_004360.5

p.L582V

c.1744C>G