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.V52L

c.154G>C

Surrounding Variants

1 paper

NM_024422.6

p.V52I

c.154G>A

1 paper

NM_024422.6

p.V52G

c.155T>G

2 papers

NM_024422.6

p.V52A

c.155T>C

1 paper

NM_024422.6

p.N53D

c.157A>G

1 paper

NM_024422.6

p.E56K

c.166G>A

1 paper

NM_024422.6

p.E56D

c.168G>T

1 paper

NM_024422.6

p.E56D

c.168G>C

1 paper

NM_024422.6

p.C57G

c.169T>G

1 paper

NM_024422.6

p.C57S

c.169T>A

1 paper

NM_024422.6

p.C57S

c.170G>C

3 papers

NM_024422.6

p.F58V

c.172T>G

1 paper

NM_024422.6

p.F58Y

c.173T>A