Varaico: Literature-Extracted Genetic Variants

DSC2

480 papers

RefSeq Summary

This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmoso...

Pfam Domains

Cadherinaa 1–91UCSCCadherin domain

Cadherin_proaa 30–113UCSCCadherin prodomain like

Cadherinaa 105–203UCSCCadherin domain

Cadherinaa 217–320UCSCCadherin domain

Cadherinaa 333–425UCSCCadherin domain

CADH_Y-type_LIRaa 699–756UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

desmocollin 2

HGNC Alias Symbol

CDHF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024422.6

p.D70E

c.210C>A

Surrounding Variants

2 papers

NM_024422.6

p.D70E

c.210C>G

1 paper

NM_024422.6

p.F71V

c.211T>G

1 paper

NM_024422.6

p.F71S

c.212T>C

1 paper

NM_024422.6

p.F71Y

c.212T>A

2 papers

NM_024422.6

p.P69S

c.205C>T

2 papers

NM_024422.6

p.Q72H

c.216A>T

2 papers

NM_024422.6

p.Q72H

c.216A>C

2 papers

NM_024422.6

p.Q72_I73insFs

c.216_217insG

1 paper

NM_024422.6

p.I73V

c.217A>G

1 paper

NM_024422.6

p.D68H

c.202G>C

1 paper

NM_024422.6

p.I73insFs

c.217_218dupAT

2 papers

NM_024422.6

p.S67G

c.199A>G