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.S339S

c.1017A>G

Surrounding Variants

3 papers

NM_024422.6

p.T340A

c.1018A>G

1 paper

NM_024422.6

p.T340N

c.1019C>A

1 paper

NM_024422.6

p.T338A

c.1012A>G

3 papers

NM_024422.6

p.I342V

c.1024A>G

1 paper

NM_024422.6

p.I343del1

c.1027_1028delAAT

1 paper

NM_024422.6

p.G334D

c.1001G>A

12 papers

NM_024422.6

p.I345T

c.1034T>C

1 paper

NM_024422.6

p.I345M

c.1035T>G

3 papers

NM_024422.6

p.Y332*

c.996T>G

3 papers

NM_024422.6

p.Y332*

c.996T>A

2 papers

NM_024422.6

p.V348L

c.1042G>T

2 papers

NM_024422.6

p.V348L

c.1042G>C