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

1–12 of 102 variants

2 papers

NM_024421.2

p.V550D

c.1649T>A

2 papers

NM_024421.2

p.Q755Q

c.2265G>A

2 papers

NM_024421.2

p.C848F

c.2543G>T

2 papers

NM_024421.2

p.E871K

c.2611G>A

1 paper

NM_024421.2

p.M1insFs

c.2dupT

1 paper

NM_024421.2

p.G9W

c.25G>T

1 paper

NM_024421.2

p.P38S

c.112C>T

1 paper

NM_024421.2

p.L41R

c.122T>G

1 paper

NM_024421.2

p.V50Splc

c.148+97G>A

1 paper

NM_024421.2

p.L52P

c.155T>C

1 paper

NM_024421.2

p.S58*

c.173C>A

1 paper

NM_024421.2

p.T80insFs

c.238_239insG