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.C81_R84del0

c.243_251del9

Surrounding Variants

2 papers

NM_004415.4

p.C81S

c.241T>A

3 papers

NM_004415.4

p.C81Y

c.242G>A

1 paper

NM_004415.4

p.C81S

c.242G>C

1 paper

NM_004415.4

p.C81*

c.243C>A

1 paper

NM_004415.4

p.D80insFs

c.238_239insG

5 papers

NM_004415.4

p.R84*

c.250C>T

2 papers

NM_004415.4

p.R84Q

c.251G>A

1 paper

NM_004415.4

p.A85_E86delFs

c.253_256del4

1 paper

NM_004415.4

p.Q76*

c.226C>T

1 paper

NM_004415.4

p.E73insFs

c.218_219insAT

1 paper

NM_004415.4

p.E73insFs

c.219dupG

2 papers

NM_004415.4

p.Q72_E73insFs

c.216_217insG