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.I2093V

c.6277A>G

Surrounding Variants

2 papers

NM_004415.4

p.A2092V

c.6275C>T

1 paper

NM_004415.4

p.A2092fs

c.6274_6275fs

1 paper

NM_004415.4

p.K2091delFs

c.6273delA

1 paper

NM_004415.4

p.P2099delins

c.6295_6296delinsAT

1 paper

NM_004415.4

p.P2099Fs

c.6296delinsATFs

2 papers

NM_004415.4

p.R2083H

c.6248G>A

2 papers

NM_004415.4

p.K2103E

c.6307A>G

1 paper

NM_004415.4

p.R2083G

c.6247C>G

2 papers

NM_004415.4

p.R2083C

c.6247C>T

17 papers

NM_004415.4

p.T2104delFs

c.6310delA

3 papers

NM_004415.4

p.T2104fs

c.6310_6311fs

9 papers

NM_004415.4

p.T2104fs

c.6310_6311fs