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.S2202delFs

c.6605delC

Surrounding Variants

1 paper

NM_004415.4

p.S2202*

c.6605C>A

1 paper

NM_004415.4

p.S2202*

c.6605C>G

1 paper

NM_004415.4

p.V2203L

c.6607G>C

1 paper

NM_004415.4

p.V2203L

c.6607G>T

1 paper

NM_004415.4

p.G2197_S2202del6

c.6589_6605del18

1 paper

NM_004415.4

p.T2196I

c.6587C>T

1 paper

NM_004415.4

p.T2196A

c.6586A>G

1 paper

NM_004415.4

p.M2208T

c.6623T>C

4 papers

NM_004415.4

p.E2193K

c.6577G>A

1 paper

NM_004415.4

p.L2186R

c.6557T>G

1 paper

NM_004415.4

p.Q2185*

c.6553C>T

1 paper

NM_004415.4

p.V2219I

c.6655G>A