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.I200T

c.599T>C

Surrounding Variants

1 paper

NM_024421.2

p.E203K

c.607G>A

1 paper

NM_024421.2

p.I194I

c.582C>A

1 paper

NM_024421.2

p.E188G

c.563A>G

1 paper

NM_024421.2

p.G176A

c.527G>C

1 paper

NM_024421.2

p.A163T

c.487G>A

1 paper

NM_024421.2

p.E145D

c.435G>C

1 paper

NM_024421.2

p.W136*

c.408G>A

1 paper

NM_024421.2

p.W136*

c.407G>A

1 paper

NM_024421.2

p.R135Q

c.404G>A

1 paper

NM_024421.2

p.R135*

c.403C>T

1 paper

NM_024421.2

p.K117_S118Splc

c.352-5T>C

1 paper

NM_024421.2

p.V109I

c.325G>A