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.M659T

c.1976T>C

Surrounding Variants

1 paper

NM_024421.2

p.M659I

c.1977G>T

1 paper

NM_024421.2

p.M659I

c.1977G>C

1 paper

NM_024421.2

p.M659I

c.1977G>A

1 paper

NM_024421.2

p.V655A

c.1964T>C

1 paper

NM_024421.2

p.S668*

c.2003C>G

1 paper

NM_024421.2

p.S668*

c.2003C>A

1 paper

NM_024421.2

p.K649K

c.1947A>G

1 paper

NM_024421.2

p.P670P

c.2010A>T

1 paper

NM_024421.2

p.K676N

c.2028G>T

1 paper

NM_024421.2

p.K676N

c.2028G>C

1 paper

NM_024421.2

p.R634Q

c.1901G>A

1 paper

NM_024421.2

p.S614fs

c.1840_1841fs