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

5 papers

NM_024422.6

p.S89L

c.266C>T

Surrounding Variants

2 papers

NM_024422.6

p.E90*

c.268G>T

1 paper

NM_024422.6

p.E90G

c.269A>G

1 paper

NM_024422.6

p.S88T

c.262T>A

1 paper

NM_024422.6

p.E90E

c.270G>A

2 papers

NM_024422.6

p.K91E

c.271A>G

1 paper

NM_024422.6

p.L86P

c.257T>C

1 paper

NM_024422.6

p.I85_L86delFs

c.253_256del4

1 paper

NM_024422.6

p.R92S

c.276A>T

1 paper

NM_024422.6

p.R92S

c.276A>C

1 paper

NM_024422.6

p.I85V

c.253A>G

1 paper

NM_024422.6

p.T84N

c.251C>A

1 paper

NM_024422.6

p.N83S

c.248A>G