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

4 papers

NM_024422.6

p.R203H

c.608G>A

Surrounding Variants

12 papers

NM_024422.6

p.R203C

c.607C>T

1 paper

NM_024422.6

p.E204K

c.610G>A

1 paper

NM_024422.6

p.Q205H

c.615G>T

1 paper

NM_024422.6

p.V201I

c.601G>A

1 paper

NM_024422.6

p.E207Q

c.619G>C

1 paper

NM_024422.6

p.E207K

c.619G>A

2 papers

NM_024422.6

p.R199C

c.595C>T

2 papers

NM_024422.6

p.G193_S208del0

c.577_624del48

1 paper

NM_024422.6

p.C197R

c.589T>C

1 paper

NM_024422.6

p.E210K

c.628G>A

1 paper

NM_024422.6

p.E210D

c.630G>T

1 paper

NM_024422.6

p.E210D

c.630G>C