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.K2689T

c.8066A>C

Surrounding Variants

1 paper

NM_004415.4

p.K2693_A2694delFs

c.8077_8080del4

1 paper

NM_004415.4

p.Q2682E

c.8044C>G

1 paper

NM_004415.4

p.G2678S

c.8032G>A

1 paper

NM_001008844.3

p.K2103E

c.6307A>G

1 paper

NM_004415.4

p.K2706M

c.8117A>T

2 papers

NM_004415.4

p.Q2672*

c.8014C>T

2 papers

NM_004415.4

p.A2709T

c.8125G>A

1 paper

NM_001008844.3

p.E2112delFs

c.6336delG

2 papers

NM_004415.4

p.A2712T

c.8134G>A

1 paper

NM_004415.4

p.T2664A

c.7990A>G

1 paper

NM_004415.4

p.K2716insFs

c.8148dupA

1 paper

NM_004415.4

p.H2662Q

c.7986C>A