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.D312E

c.936C>G

Surrounding Variants

1 paper

NM_024422.6

p.D312A

c.935A>C

1 paper

NM_024422.6

p.D312N

c.934G>A

1 paper

NM_024422.6

p.R313fs

c.937_938fs

1 paper

NM_024422.6

p.L311I

c.931C>A

1 paper

NM_024422.6

p.R313_E314delFs

c.939_942del4

1 paper

NM_024422.6

p.Q310P

c.929A>C

3 papers

NM_024422.6

p.E314_L315Splc

c.942+3A>G

1 paper

NM_024422.6

p.S309F

c.926C>T

1 paper

NM_024422.6

p.T307del1

c.919_920delTGT

1 paper

NM_024422.6

p.T306delFs

c.917_918delTG

2 papers

NM_024422.6

p.T305del1

c.913_914delGGT

1 paper

NM_024422.6

p.V303L

c.907G>T