Varaico: Literature-Extracted Genetic Variants

DSP

719 papers

RefSeq Summary

This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomy...

Pfam Domains

Spectrin_3aa 379–446UCSCSpectrin-like repeat

SH3_10aa 447–513UCSCSH3 domain

Spectrin_2aa 548–625UCSCSpectrin like domain

SR_desmoplakin_3aa 846–1012UCSCDesmoplakin-like, Spectrin domain

Plectinaa 2048–2086UCSCPlectin repeat

Plectinaa 2124–2162UCSCPlectin repeat

Gene Aliases

HGNC Name

desmoplakin

HGNC Alias Symbols

KPPS2; PPKS2; DPI; DPII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_004415.4

p.E293V

c.878A>T

Surrounding Variants

1 paper

NM_004415.4

p.E293K

c.877G>A

1 paper

NM_004415.4

p.E293_D297ins1

c.879_890dup12

1 paper

NM_004415.4

p.E292A

c.875A>C

1 paper

NM_004415.4

p.Y296_D297insA

c.886_890ins3

2 papers

NM_004415.4

p.Y296delFs

c.888delC

1 paper

NM_004415.4

p.Y296*

c.888C>A

1 paper

NM_004415.4

p.Y296*

c.888C>G

4 papers

NM_004415.4

p.E290K

c.868G>A

2 papers

NM_004415.4

p.C289*

c.867C>A

3 papers

NM_004415.4

p.D297N

c.889G>A

28 papers

NM_004415.4

p.S299R

c.895A>C

16 papers

NM_004415.4

p.N287K

c.861T>A