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

1 paper

NM_001941.5

p.L457W

c.1370T>G

Surrounding Variants

1 paper

NM_001941.5

p.A452T

c.1354G>A

1 paper

NM_001941.5

p.G468R

c.1402G>C

1 paper

NM_001941.5

p.G468R

c.1402G>A

2 papers

NM_001941.5

p.Q430*

c.1288C>T

1 paper

NM_001941.5

p.R429H

c.1286G>A

1 paper

NM_001941.5

p.N491N

c.1473C>T

1 paper

NM_001941.5

p.G492S

c.1474G>A

1 paper

NM_001941.5

p.N500N

c.1500T>C

1 paper

NM_001941.5

p.G503A

c.1508G>C

1 paper

NM_001941.5

p.P514L

c.1541C>T

1 paper

NM_001941.5

p.G516V

c.1547G>T

1 paper

NM_001941.5

p.S524L

c.1571C>T