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.A2150delFs

c.6449delC

Surrounding Variants

1 paper

NM_004415.4

p.G2152insFs

c.6456dupG

2 papers

NM_004415.4

p.R2151W

c.6451C>T

1 paper

NM_004415.4

p.R2151fs

c.6451_6452fs

3 papers

NM_004415.4

p.A2148T

c.6442G>A

1 paper

NM_004415.4

p.L2153fs

c.6457_6458fs

1 paper

NM_004415.4

p.R2156insFs

c.6466dupA

1 paper

NM_004415.4

p.R2156fs

c.6466_6467fs

6 papers

NM_004415.4

p.R2160*

c.6478C>T

3 papers

NM_004415.4

p.N2139S

c.6416A>G

1 paper

NM_004415.4

p.S2161F

c.6482C>T

1 paper

NM_004415.4

p.V2138fs

c.6412_6413fs

1 paper

NM_004415.4

p.P2137insFs

c.6410dupC