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

7 papers

NM_004415.4

p.D2070N

c.6208G>A

Surrounding Variants

1 paper

NM_004415.4

p.V2069F

c.6205G>T

1 paper

NM_004415.4

p.I2073insFs

c.6218_6219dupTA

1 paper

NM_004415.4

p.T2068_V2069delFs

c.6202_6205del4

1 paper

NM_004415.4

p.R2075W

c.6223C>T

1 paper

NM_004415.4

p.D2079H

c.6235G>C

1 paper

NM_004415.4

p.P2061delFs

c.6183delC

1 paper

NM_004415.4

p.D2081N

c.6241G>A

1 paper

NM_004415.4

p.R2083G

c.6247C>G

2 papers

NM_004415.4

p.R2083C

c.6247C>T

2 papers

NM_004415.4

p.R2083H

c.6248G>A

7 papers

NM_004415.4

p.G2056R

c.6166G>C

1 paper

NM_004415.4

p.A2053fs

c.6157_6158fs