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

2 papers

NM_024422.6

p.P139L

c.416C>T

Surrounding Variants

2 papers

NM_024422.6

p.A138fs

c.412_413fs

1 paper

NM_024422.6

p.I140insFs

c.418dupA

1 paper

NM_024422.6

p.A138insFs

c.412dupG

2 papers

NM_024422.6

p.R135_W137insFs

c.405_411dup7

1 paper

NM_024422.6

p.W137_A138insFs

c.411_412ins7

1 paper

NM_024422.6

p.P141A

c.421C>G

1 paper

NM_024422.6

p.R136R

c.408A>G

2 papers

NM_024422.6

p.M144V

c.430A>G

1 paper

NM_024422.6

p.A133P

c.397G>C

4 papers

NM_024422.6

p.A133T

c.397G>A

4 papers

NM_024422.6

p.R132H

c.395G>A

16 papers

NM_024422.6

p.R132C

c.394C>T