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

1–12 of 617 variants

22 papers

NM_024422.6

p.G790del1

c.2368_2369delTCC

20 papers

NM_024422.6

p.E102K

c.304G>A

20 papers

NM_024422.6

p.E210_I211Splc

c.631-2A>G

20 papers

NM_024422.6

p.L732V

c.2194T>G

19 papers

NM_024422.6

p.Q554*

c.1660C>T

17 papers

NM_024422.6

p.E896insFs

c.2686_2687dupGA

16 papers

NM_024422.6

p.R132C

c.394C>T

13 papers

NM_024422.6

p.R798Q

c.2393G>A

12 papers

NM_024422.6

p.R203C

c.607C>T

12 papers

NM_024422.6

p.T275M

c.824C>T

12 papers

NM_024422.6

p.I345T

c.1034T>C

12 papers

NM_024422.6

p.I776V

c.2326A>G