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

1 paper

NM_004415.4

p.Q2730delFs

c.8188delC

Surrounding Variants

2 papers

NM_004415.4

p.Q2730fs

c.8188_8189fs

2 papers

NM_004415.4

p.Y2731H

c.8191T>C

1 paper

NM_001008844.3

p.L2128delFs

c.6384delG

1 paper

NM_004415.4

p.Q2724R

c.8171A>G

1 paper

NM_001008844.3

p.G2136insFs

c.6406_6407insCC

1 paper

NM_004415.4

p.G2735A

c.8204G>C

1 paper

NM_004415.4

p.W2717R

c.8149T>A

1 paper

NM_004415.4

p.W2717R

c.8149T>C

1 paper

NM_004415.4

p.H2742Y

c.8224C>T

1 paper

NM_004415.4

p.K2716insFs

c.8148dupA

2 papers

NM_004415.4

p.A2712T

c.8134G>A

1 paper

NM_001008844.3

p.E2112delFs

c.6336delG