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.C872*

c.2616C>A

Surrounding Variants

1 paper

NM_024422.6

p.R875*

c.2623C>T

1 paper

NM_024422.6

p.R875Q

c.2624G>A

10 papers

NM_024422.6

p.S868F

c.2603C>T

3 papers

NM_024422.6

p.D879G

c.2636A>G

1 paper

NM_024422.6

p.S864L

c.2591C>T

1 paper

NM_024422.6

p.E882K

c.2644G>A

1 paper

NM_024422.6

p.G863E

c.2588G>A

7 papers

NM_024422.6

p.G863R

c.2587G>C

8 papers

NM_024422.6

p.G863R

c.2587G>A

1 paper

NM_024422.6

p.G863fs

c.2587_2588fs

1 paper

NM_024422.6

p.G861_R862insFs

c.2582_2585dup4

1 paper

NM_024422.6

p.Y859C

c.2576A>G