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.P353T

c.1057C>A

Surrounding Variants

1 paper

NM_024422.6

p.P353S

c.1057C>T

6 papers

NM_024422.6

p.D350Y

c.1048G>T

1 paper

NM_024422.6

p.V348_N349insFs

c.1044_1047dup4

1 paper

NM_024422.6

p.D350fs

c.1048_1049fs

1 paper

NM_024422.6

p.T356I

c.1067C>T

1 paper

NM_024422.6

p.T356N

c.1067C>A

2 papers

NM_024422.6

p.V348L

c.1042G>T

2 papers

NM_024422.6

p.V348L

c.1042G>C

7 papers

NM_024422.6

p.T358I

c.1073C>T

1 paper

NM_024422.6

p.S359delFs

c.1075delA

1 paper

NM_024422.6

p.S359_Y360Splc

c.1077+2T>G

1 paper

NM_024422.6

p.I345M

c.1035T>G