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.G2375A

c.7124G>C

Surrounding Variants

24 papers

NM_004415.4

p.G2375R

c.7123G>A

23 papers

NM_004415.4

p.G2375R

c.7123G>C

1 paper

NM_004415.4

p.T2374T

c.7122C>T

1 paper

NM_001008844.3

p.A1774delFs

c.5321_5322delCA

1 paper

NM_004415.4

p.I2372fs

c.7114_7115fs

5 papers

NM_004415.4

p.Q2371K

c.7111C>A

1 paper

NM_004415.4

p.Q2371_A2373delFs

c.7113_7119del7

6 papers

NM_004415.4

p.R2366H

c.7097G>A

1 paper

NM_004415.4

p.R2366G

c.7096C>G

20 papers

NM_004415.4

p.R2366C

c.7096C>T

1 paper

NM_004415.4

p.R2385H

c.7154G>A

1 paper

NM_004415.4

p.R2366_L2368delFs

c.7096_7103del8