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.T548delFs

c.1643delG

Surrounding Variants

1 paper

NM_024422.6

p.I547N

c.1640T>A

1 paper

NM_024422.6

p.I547F

c.1639A>T

19 papers

NM_024422.6

p.Q554*

c.1660C>T

2 papers

NM_024422.6

p.Q554R

c.1661A>G

1 paper

NM_024422.6

p.G555R

c.1663G>A

2 papers

NM_024422.6

p.I540M

c.1620C>G

1 paper

NM_024422.6

p.G555Splc

c.1663+9T>C

1 paper

NM_024422.6

p.S532_D534del3

c.1594_1601del9

1 paper

NM_024422.6

p.D534V

c.1601A>T

2 papers

NM_024422.6

p.I527_K528delFs

c.1580_1583del4

1 paper

NM_024422.6

p.I527M

c.1581C>G

1 paper

NM_024422.6

p.I527fs

c.1579_1580fs