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.S99T

c.295T>A

Surrounding Variants

1 paper

NM_024422.6

p.S99F

c.296C>T

1 paper

NM_024422.6

p.S99insFs

c.296_297insA

1 paper

NM_024422.6

p.S99fs

c.295_296fs

1 paper

NM_024422.6

p.T101A

c.301A>G

1 paper

NM_024422.6

p.T101N

c.302C>A

2 papers

NM_024422.6

p.I96T

c.287T>C

20 papers

NM_024422.6

p.E102K

c.304G>A

3 papers

NM_024422.6

p.I96V

c.286A>G

1 paper

NM_024422.6

p.I96L

c.286A>C

1 paper

NM_024422.6

p.N103K

c.309C>G

1 paper

NM_024422.6

p.N103K

c.309C>A

1 paper

NM_024422.6

p.Q104L

c.311A>T