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.T288P

c.862A>C

Surrounding Variants

1 paper

NM_001941.5

p.Q286*

c.856C>T

1 paper

NM_001941.5

p.F295V

c.883T>G

1 paper

NM_001941.5

p.H277N

c.829C>A

1 paper

NM_001941.5

p.P273L

c.818C>T

1 paper

NM_001941.5

p.V303I

c.907G>A

1 paper

NM_001941.5

p.D271H

c.811G>C

1 paper

NM_001941.5

p.T244R

c.731C>G

3 papers

NM_001941.5

p.N239S

c.716A>G

1 paper

NM_001941.5

p.R232M

c.695G>T

1 paper

NM_001941.5

p.P228L

c.683C>T

1 paper

NM_001941.5

p.R203H

c.608G>A

1 paper

NM_001941.5

p.R203C

c.607C>T