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.E245D

c.735A>T

Surrounding Variants

1 paper

NM_024422.6

p.E245D

c.735A>C

2 papers

NM_024422.6

p.E245del1

c.733_734delTTC

1 paper

NM_024422.6

p.N239_F243insFs

c.715_728dup14

1 paper

NM_024422.6

p.F243fs

c.727_728fs

1 paper

NM_024422.6

p.T249P

c.745A>C

2 papers

NM_024422.6

p.F250I

c.748T>A

1 paper

NM_024422.6

p.F250Y

c.749T>A

1 paper

NM_024422.6

p.I252T

c.755T>C

5 papers

NM_024422.6

p.D238del1

c.712_714delATC

1 paper

NM_024422.6

p.D238G

c.713A>G

2 papers

NM_024422.6

p.N255Y

c.763A>T

1 paper

NM_024422.6

p.N255H

c.763A>C