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.A28D

c.83C>A

Surrounding Variants

1 paper

NM_001941.5

p.R27S

c.79C>A

1 paper

NM_001941.5

p.C32S

c.94T>A

1 paper

NM_001941.5

p.C32S

c.95G>C

1 paper

NM_001941.5

p.V52L

c.154G>C

1 paper

NM_001941.5

p.V52Splc

c.154+54A>C

1 paper

NM_001941.5

p.V52L

c.154G>C

1 paper

NM_001941.5

p.V52I

c.154G>A

1 paper

NM_001941.5

p.V52G

c.155T>G

1 paper

NM_001941.5

p.V52A

c.155T>C

1 paper

NM_001941.5

p.E55K

c.163G>A

1 paper

NM_001941.5

p.C57S

c.169T>A

1 paper

NM_001941.5

p.C57S

c.170G>C