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

9 papers

NM_024422.6

p.E896insFs

c.2687_2688insGA

Surrounding Variants

1 paper

NM_024422.6

p.E896fs

c.2686_2687fs

17 papers

NM_024422.6

p.E896insFs

c.2686_2687dupGA

1 paper

NM_024422.6

p.A895fs

c.2683_2684fs

9 papers

NM_024422.6

p.A897fs

c.2689_2690fs

7 papers

NM_024422.6

p.A897fs

c.2689_2690fs

1 paper

NM_024422.6

p.R901G

c.2701A>G

1 paper

NM_024422.6

p.P889L

c.2666C>T

1 paper

NM_024422.6

p.E882K

c.2644G>A

3 papers

NM_024422.6

p.D879G

c.2636A>G

1 paper

NM_024422.6

p.R875Q

c.2624G>A

1 paper

NM_024422.6

p.R875*

c.2623C>T

1 paper

NM_024422.6

p.C872*

c.2616C>A