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.S58*

c.173C>A

Surrounding Variants

1 paper

NM_024421.2

p.L52P

c.155T>C

1 paper

NM_024421.2

p.T80insFs

c.238_239insG

1 paper

NM_024421.2

p.S93F

c.278C>T

1 paper

NM_024421.2

p.G99A

c.296G>C

1 paper

NM_024421.2

p.V109I

c.325G>A

1 paper

NM_024421.2

p.K117_S118Splc

c.352-5T>C

1 paper

NM_024421.2

p.R135*

c.403C>T

1 paper

NM_024421.2

p.R135Q

c.404G>A

1 paper

NM_024421.2

p.W136*

c.407G>A

1 paper

NM_024421.2

p.W136*

c.408G>A

1 paper

NM_024421.2

p.E145D

c.435G>C

1 paper

NM_024421.2

p.V50Splc

c.148+97G>A