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.E743D

c.2229A>T

Surrounding Variants

1 paper

NM_024422.6

p.E743D

c.2229A>C

1 paper

NM_024422.6

p.P745fs

c.2233_2234fs

2 papers

NM_024422.6

p.P745delFs

c.2234delG

2 papers

NM_024422.6

p.S740*

c.2219C>G

2 papers

NM_024422.6

p.S740*

c.2219C>A

1 paper

NM_024422.6

p.S740P

c.2218T>C

1 paper

NM_024422.6

p.V739L

c.2215G>T

1 paper

NM_024422.6

p.V739L

c.2215G>C

2 papers

NM_024422.6

p.V750_Y751Splc

c.2250+2T>C

1 paper

NM_024422.6

p.A733_Q734Fs

c.2197_2202delinsGFs

2 papers

NM_024422.6

p.Q735*

c.2203C>T

1 paper

NM_024422.6

p.A733_Q734del0

c.2197_2202del6