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.A267P

c.799G>C

Surrounding Variants

1 paper

NM_024422.6

p.A267S

c.799G>T

1 paper

NM_024422.6

p.A267T

c.799G>A

1 paper

NM_024422.6

p.C266*

c.798T>A

4 papers

NM_024422.6

p.T268A

c.802A>G

1 paper

NM_024422.6

p.T268P

c.802A>C

1 paper

NM_024422.6

p.T268_D269insC

c.802_806ins3

2 papers

NM_024422.6

p.Q264delFs

c.790delG

1 paper

NM_024422.6

p.G263delFs

c.788_789delTC

1 paper

NM_024422.6

p.K270*

c.808A>T

2 papers

NM_024422.6

p.D271H

c.811G>C

1 paper

NM_024422.6

p.P273S

c.817C>T

1 paper

NM_024422.6

p.E272_P273delins

c.816_817delinsAT