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

2 papers

NM_004415.4

p.R1922delFs

c.5764delA

Surrounding Variants

1 paper

NM_004415.4

p.K1916*

c.5746A>T

1 paper

NM_004415.4

p.K1916fs

c.5746_5747fs

2 papers

NM_004415.4

p.R1915H

c.5744G>A

1 paper

NM_004415.4

p.R1915insFs

c.5745dupT

14 papers

NM_004415.4

p.R1934*

c.5800C>T

1 paper

NM_004415.4

p.I1909fs

c.5725_5726fs

2 papers

NM_004415.4

p.I1909delFs

c.5725delA

1 paper

NM_004415.4

p.Y1935C

c.5804A>G

1 paper

NM_004415.4

p.Q1936*

c.5806C>T

1 paper

NM_004415.4

p.I1906_K1907delFs

c.5718_5719delCA

1 paper

NM_004415.4

p.A1904fs

c.5710_5711fs

2 papers

NM_004415.4

p.K1941T

c.5822A>C