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.I96T

c.287T>C

Surrounding Variants

1 paper

NM_001941.5

p.I96V

c.286A>G

2 papers

NM_001941.5

p.R102K

c.305G>A

1 paper

NM_001941.5

p.A86V

c.257C>T

1 paper

NM_001941.5

p.V79G

c.236T>G

1 paper

NM_001941.5

p.V79A

c.236T>C

1 paper

NM_001941.5

p.S78L

c.233C>T

1 paper

NM_001941.5

p.S78T

c.232T>A

1 paper

NM_001941.5

p.H115D

c.343C>G

1 paper

NM_001941.5

p.G77V

c.230G>T

1 paper

NM_001941.5

p.F71S

c.212T>C

1 paper

NM_001941.5

p.F71Y

c.212T>A

1 paper

NM_001941.5

p.P69L

c.206C>T