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.I527M

c.1581C>G

Surrounding Variants

1 paper

NM_024422.6

p.I527fs

c.1579_1580fs

2 papers

NM_024422.6

p.I527_K528delFs

c.1580_1583del4

1 paper

NM_024422.6

p.S526L

c.1577C>T

1 paper

NM_024422.6

p.S526*

c.1577C>G

1 paper

NM_024422.6

p.S526*

c.1577C>A

1 paper

NM_024422.6

p.E522K

c.1564G>A

1 paper

NM_024422.6

p.D521G

c.1562A>G

1 paper

NM_024422.6

p.D534V

c.1601A>T

4 papers

NM_024422.6

p.I520T

c.1559T>C

1 paper

NM_024422.6

p.S532_D534del3

c.1594_1601del9

2 papers

NM_024422.6

p.I540M

c.1620C>G

1 paper

NM_024422.6

p.D513Y

c.1537G>T