Varaico: Literature-Extracted Genetic Variants

DSC1

99 papers

RefSeq Summary

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogle...

Pfam Domains

Cadherin_proaa 29–111UCSCCadherin prodomain like

Cadherinaa 139–233UCSCCadherin domain

Cadherinaa 247–345UCSCCadherin domain

Cadherinaa 359–463UCSCCadherin domain

Cadherinaa 476–568UCSCCadherin domain

Gene Aliases

HGNC Name

desmocollin 1

HGNC Alias Symbol

CDHF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024421.2

p.G860S

c.2578G>A

Surrounding Variants

1 paper

NM_024421.2

p.C865Y

c.2594G>A

1 paper

NM_024421.2

p.E870K

c.2608G>A

2 papers

NM_024421.2

p.E871K

c.2611G>A

2 papers

NM_024421.2

p.C848F

c.2543G>T

1 paper

NM_024421.2

p.E844*

c.2530G>T

1 paper

NM_024421.2

p.D878D

c.2634T>C

1 paper

NM_024421.2

p.E839D

c.2517G>T

1 paper

NM_024421.2

p.E839D

c.2517G>C

1 paper

NM_024421.2

p.I892M

c.2676C>G

1 paper

NM_024421.2

p.A815V

c.2444C>T

1 paper

NM_024421.2

p.A815G

c.2444C>G

1 paper

NM_024421.2

p.G773E

c.2318G>A