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

2 papers

NM_004415.4

p.R2541S

c.7623G>T

Surrounding Variants

2 papers

NM_004415.4

p.R2541S

c.7623G>C

2 papers

NM_004415.4

p.K2542fs

c.7624_7625fs

3 papers

NM_004415.4

p.R2541K

c.7622G>A

1 paper

NM_004415.4

p.R2541insFs

c.7623dupG

5 papers

NM_004415.4

p.R2541delFs

c.7622delG

1 paper

NM_004415.4

p.V2539A

c.7616T>C

1 paper

NM_004415.4

p.F2544L

c.7632T>G

1 paper

NM_004415.4

p.Y2547*

c.7641C>A

1 paper

NM_004415.4

p.Y2547*

c.7641C>G

1 paper

NM_004415.4

p.D2535G

c.7604A>G

1 paper

NM_004415.4

p.R2548*

c.7642C>T

1 paper

NM_004415.4

p.I2534_D2535delFs

c.7602_7605del4