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.L149M

c.445T>A

Surrounding Variants

1 paper

NM_024422.6

p.S148C

c.443C>G

1 paper

NM_024422.6

p.S148T

c.442T>A

2 papers

NM_024422.6

p.I140_N147del8

c.418_440del24

3 papers

NM_024422.6

p.G150A

c.449G>C

1 paper

NM_024422.6

p.G150D

c.449G>A

1 paper

NM_024422.6

p.S148_P151del4

c.442_452del12

1 paper

NM_024422.6

p.P153S

c.457C>T

1 paper

NM_024422.6

p.L154F

c.460C>T

1 paper

NM_024422.6

p.G150_P153del4

c.448_458del12

2 papers

NM_024422.6

p.M144V

c.430A>G

1 paper

NM_024422.6

p.L154L

c.462T>C

2 papers

NM_024422.6

p.L156F

c.466C>T