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.K788_G789del2

c.2362_2366del6

Surrounding Variants

3 papers

NM_024422.6

p.G790R

c.2368G>C

3 papers

NM_024422.6

p.G790R

c.2368G>A

22 papers

NM_024422.6

p.G790del1

c.2368_2369delTCC

1 paper

NM_024422.6

p.T793insFs

c.2379dupC

2 papers

NM_024422.6

p.S794L

c.2381C>T

1 paper

NM_024422.6

p.S794fs

c.2380_2381fs

1 paper

NM_024422.6

p.E785G

c.2354A>G

2 papers

NM_024422.6

p.S796P

c.2386T>C

1 paper

NM_024422.6

p.C797F

c.2390G>T

1 paper

NM_024422.6

p.E782K

c.2344G>A

2 papers

NM_024422.6

p.R798L

c.2393G>T

13 papers

NM_024422.6

p.R798Q

c.2393G>A