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

6 papers

NM_001941.5

p.L710*

c.2129T>G

Surrounding Variants

5 papers

NM_001941.5

p.L710*

c.2129T>A

1 paper

NM_001941.5

p.S705Splc

c.2114-2A>T

1 paper

NM_001941.5

p.T718I

c.2153C>T

1 paper

NM_001941.5

p.D726N

c.2176G>A

1 paper

NM_001941.5

p.D726A

c.2177A>C

2 papers

NM_001941.5

p.L727*

c.2180T>G

2 papers

NM_001941.5

p.L727*

c.2180T>A

1 paper

NM_001941.5

p.P740S

c.2218C>T

1 paper

NM_001941.5

p.T680insFs

c.2039_2040insT

1 paper

NM_001941.5

p.A656A

c.1968C>T

1 paper

NM_001941.5

p.T651T

c.1953T>C

2 papers

NM_001941.5

p.V745_C746Splc

c.2236-2A>G