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

1–12 of 117 variants

6 papers

NM_001941.5

p.L710*

c.2129T>G

5 papers

NM_001941.5

p.L710*

c.2129T>A

3 papers

NM_001941.5

p.N239S

c.716A>G

2 papers

NM_001941.5

p.A28D

c.83C>A

2 papers

NM_001941.5

p.R102K

c.305G>A

2 papers

NM_001941.5

p.Q430*

c.1288C>T

2 papers

NM_001941.5

p.L727*

c.2180T>G

2 papers

NM_001941.5

p.L727*

c.2180T>A

2 papers

NM_001941.5

p.V745_C746Splc

c.2236-2A>G

1 paper

NM_001941.5

p.M1T

c.2T>C

1 paper

NM_001941.5

p.M1K

c.2T>A

1 paper

NM_001941.5

p.R11L

c.32G>T