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.K2782E

c.8344A>G

Surrounding Variants

1 paper

NM_004415.4

p.L2781F

c.8343A>C

1 paper

NM_004415.4

p.L2781F

c.8343A>T

1 paper

NM_004415.4

p.I2773V

c.8317A>G

1 paper

NM_004415.4

p.R2791S

c.8371C>A

1 paper

NM_004415.4

p.Y2770C

c.8309A>G

1 paper

NM_004415.4

p.D2796G

c.8387A>G

1 paper

NM_004415.4

p.T2767N

c.8300C>A

2 papers

NM_004415.4

p.T2767I

c.8300C>T

1 paper

NM_004415.4

p.T2767A

c.8299A>G

1 paper

NM_004415.4

p.G2799R

c.8395G>A

1 paper

NM_004415.4

p.L2764insFs

c.8290_8291ins4

1 paper

NM_004415.4

p.L2764insFs

c.8291_8292ins4