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

2 papers

NM_024421.2

p.V550D

c.1649T>A

Surrounding Variants

1 paper

NM_024421.2

p.R535I

c.1604G>T

1 paper

NM_024421.2

p.D534H

c.1600G>C

1 paper

NM_024421.2

p.K531N

c.1593A>T

1 paper

NM_024421.2

p.K531N

c.1593A>C

1 paper

NM_024421.2

p.D526Y

c.1576G>T

1 paper

NM_024421.2

p.N516S

c.1547A>G

1 paper

NM_024421.2

p.K510N

c.1530G>T

1 paper

NM_024421.2

p.K510N

c.1530G>C

1 paper

NM_024421.2

p.S501F

c.1502C>T

1 paper

NM_024421.2

p.E489K

c.1465G>A

1 paper

NM_024421.2

p.G487A

c.1460G>C

1 paper

NM_024421.2

p.P485S

c.1453C>T