Varaico: Literature-Extracted Genetic Variants

Gene:DSP

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
1–12 of 1333 variants
28 papers
NM_004415.4
p.V30M
c.88G>A
28 papers
NM_004415.4
p.S299R
c.895A>C
28 papers
NM_004415.4
p.S299R
c.897C>A
28 papers
NM_004415.4
p.S299R
c.897C>G
25 papers
NM_004415.4
p.R2834H
c.8501G>A
24 papers
NM_004415.4
p.G2375R
c.7123G>A
23 papers
NM_004415.4
p.G2375R
c.7123G>C
22 papers
NM_004415.4
p.Q90R
c.269A>G
22 papers
NM_004415.4
p.R1267*
c.3799C>T
20 papers
NM_004415.4
p.R2366C
c.7096C>T
17 papers
NM_004415.4
p.T2104delFs
c.6310delA
16 papers
NM_004415.4
p.N287K
c.861T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."