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.P9S

c.25C>T

Surrounding Variants

1 paper

NM_004415.4

p.H8Q

c.24C>A

1 paper

NM_004415.4

p.H8Q

c.24C>G

1 paper

NM_004415.4

p.R10insFs

c.28_29insA

1 paper

NM_004415.4

p.I11insFs

c.32dupT

1 paper

NM_004415.4

p.N4K

c.12C>A

1 paper

NM_004415.4

p.N4K

c.12C>G

2 papers

NM_004415.4

p.T13I

c.38C>T

1 paper

NM_004415.4

p.C3delFs

c.7delT

2 papers

NM_004415.4

p.S2N

c.5G>A

1 paper

NM_004415.4

p.S2I

c.5G>T

3 papers

NM_004415.4

p.R16C

c.46C>T

1 paper

NM_004415.4

p.M1K

c.2T>A