Varaico: Literature-Extracted Genetic Variants

DSC3

121 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 27–113UCSCCadherin prodomain like

Cadherinaa 140–234UCSCCadherin domain

Cadherinaa 248–346UCSCCadherin domain

Cadherinaa 360–463UCSCCadherin domain

Cadherinaa 476–568UCSCCadherin domain

CADH_Y-type_LIRaa 837–894UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

desmocollin 3

HGNC Previous Symbol

DSC4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001941.5

p.V745_C746Splc

c.2236-2A>G

Surrounding Variants

1 paper

NM_001941.5

p.G768R

c.2302G>C

1 paper

NM_001941.5

p.G768R

c.2302G>A

1 paper

NM_001941.5

p.G768E

c.2303G>A

1 paper

NM_001941.5

p.M771I

c.2313G>T

1 paper

NM_001941.5

p.M771I

c.2313G>C

1 paper

NM_001941.5

p.M771I

c.2313G>A

1 paper

NM_001941.5

p.G775R

c.2323G>C

1 paper

NM_001941.5

p.G775R

c.2323G>A

1 paper

NM_001941.5

p.E777K

c.2329G>A

1 paper

NM_001941.5

p.M781I

c.2343G>T

1 paper

NM_001941.5

p.M781I

c.2343G>C

1 paper

NM_001941.5

p.M781I

c.2343G>A