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.E114delFs

c.341delT

Surrounding Variants

1 paper

NM_024422.6

p.E114del1

c.340_341delCTC

1 paper

NM_024422.6

p.E114G

c.341A>G

1 paper

NM_024422.6

p.E114fs

c.340_341fs

1 paper

NM_024422.6

p.L113delFs

c.338delA

1 paper

NM_024422.6

p.L113*

c.338T>A

1 paper

NM_024422.6

p.Q116Q

c.348A>G

3 papers

NM_024422.6

p.F112Y

c.335T>A

1 paper

NM_024422.6

p.T117T

c.351A>G

1 paper

NM_024422.6

p.V111L

c.331G>C

1 paper

NM_024422.6

p.F110I

c.328T>A

1 paper

NM_024422.6

p.K118_V119Splc

c.354+3A>T

2 papers

NM_024422.6

p.I109M

c.327A>G