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.I173V

c.517A>G

Surrounding Variants

1 paper

NM_024422.6

p.I173M

c.519A>G

1 paper

NM_024422.6

p.Y170H

c.508T>C

1 paper

NM_024422.6

p.G175delFs

c.525delA

2 papers

NM_024422.6

p.P176L

c.527C>T

1 paper

NM_024422.6

p.Y167_T168insFs

c.501_502dupTA

1 paper

NM_024422.6

p.T168fs

c.502_503fs

11 papers

NM_024422.6

p.D179G

c.536A>G

1 paper

NM_024422.6

p.T163M

c.488C>T

2 papers

NM_024422.6

p.R183W

c.547C>T

1 paper

NM_024422.6

p.D162delFs

c.484delC

1 paper

NM_024422.6

p.Q160R

c.479A>G

1 paper

NM_024422.6

p.F186L

c.558T>A