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.E836_K837Splc

c.2509-2A>T

Surrounding Variants

3 papers

NM_024422.6

p.K837delFs

c.2509delT

1 paper

NM_024422.6

p.Y839*

c.2517T>G

1 paper

NM_024422.6

p.Y839*

c.2517T>A

1 paper

NM_024422.6

p.D844Y

c.2530G>T

1 paper

NM_024422.6

p.D844V

c.2531A>T

1 paper

NM_024422.6

p.D844delFs

c.2530_2531delTC

1 paper

NM_024422.6

p.E845*

c.2533G>T

1 paper

NM_024422.6

p.H847insFs

c.2540dupA

3 papers

NM_024422.6

p.Q851delFs

c.2553delT

1 paper

NM_024422.6

p.D852fs

c.2554_2555fs

1 paper

NM_024422.6

p.Y859C

c.2576A>G

1 paper

NM_024422.6

p.G861_R862insFs

c.2582_2585dup4