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

1 paper

NM_024422.6

p.E210_I211Splc

c.631-1G>A

Surrounding Variants

20 papers

NM_024422.6

p.E210_I211Splc

c.631-2A>G

1 paper

NM_024422.6

p.I211M

c.633A>G

1 paper

NM_024422.6

p.A213T

c.637G>A

1 paper

NM_024422.6

p.A213V

c.638C>T

1 paper

NM_024422.6

p.E210_I211Splc

c.631-10C>T

1 paper

NM_024422.6

p.T217A

c.649A>G

2 papers

NM_024422.6

p.G220R

c.658G>C

2 papers

NM_024422.6

p.G220R

c.658G>A

3 papers

NM_024422.6

p.Y221*

c.663T>G

3 papers

NM_024422.6

p.Y221*

c.663T>A

1 paper

NM_024422.6

p.L229delFs

c.685delG

4 papers

NM_024422.6

p.I231T

c.692T>C