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.F295fs

c.883_884fs

Surrounding Variants

1 paper

NM_024422.6

p.L294insFs

c.882dupA

1 paper

NM_024422.6

p.S296_M297insA

c.886_890ins3

1 paper

NM_024422.6

p.L294I

c.880C>A

1 paper

NM_024422.6

p.T293_M297ins1

c.879_890dup12

1 paper

NM_024422.6

p.P292L

c.875C>T

3 papers

NM_024422.6

p.P292S

c.874C>T

1 paper

NM_024422.6

p.P299S

c.895C>T

1 paper

NM_024422.6

p.T300A

c.898A>G

1 paper

NM_024422.6

p.T300S

c.899C>G

4 papers

NM_024422.6

p.P289S

c.865C>T

4 papers

NM_024422.6

p.T301A

c.901A>G

2 papers

NM_024422.6

p.G302D

c.905G>A