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.C706Splc

c.2117-2A>G

Surrounding Variants

1 paper

NM_024421.2

p.K722N

c.2166A>T

1 paper

NM_024421.2

p.K722N

c.2166A>C

1 paper

NM_024421.2

p.D727N

c.2179G>A

1 paper

NM_024421.2

p.G740R

c.2218G>C

1 paper

NM_024421.2

p.G740R

c.2218G>A

1 paper

NM_024421.2

p.N749H

c.2245A>C

2 papers

NM_024421.2

p.Q755Q

c.2265G>A

1 paper

NM_024421.2

p.T768A

c.2302A>G

1 paper

NM_024421.2

p.G773E

c.2318G>A

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.K676N

c.2028G>T