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.L1995S

c.5984T>C

Surrounding Variants

1 paper

NM_004415.4

p.Y1981C

c.5942A>G

2 papers

NM_004415.4

p.M1978V

c.5932A>G

1 paper

NM_004415.4

p.V1975_T1976del1

c.5924_5926delTGA

1 paper

NM_004415.4

p.V1975_T1976del2

c.5923_5927del6

1 paper

NM_004415.4

p.G2016G

c.6048A>C

3 papers

NM_004415.4

p.A2019S

c.6055G>T

2 papers

NM_004415.4

p.A2021G

c.6062C>G

1 paper

NM_004415.4

p.D1969N

c.5905G>A

1 paper

NM_004415.4

p.D1969Y

c.5905G>T

1 paper

NM_004415.4

p.A2023V

c.6068C>T

1 paper

NM_004415.4

p.K2026_E2027delFs

c.6078_6079delGG

2 papers

NM_004415.4

p.V1961I

c.5881G>A