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

12 papers

NM_004415.4

p.A2655D

c.7964C>A

Surrounding Variants

1 paper

NM_004415.4

p.A2655G

c.7964C>G

1 paper

NM_004415.4

p.C2656fs

c.7966_7967fs

2 papers

NM_004415.4

p.Q2654*

c.7960C>T

1 paper

NM_004415.4

p.E2652_A2653del2

c.7954_7958del6

1 paper

NM_004415.4

p.H2662Q

c.7986C>A

1 paper

NM_004415.4

p.H2662Q

c.7986C>G

1 paper

NM_004415.4

p.G2647D

c.7940G>A

1 paper

NM_004415.4

p.T2664A

c.7990A>G

1 paper

NM_004415.4

p.V2642I

c.7924G>A

11 papers

NM_004415.4

p.R2639Q

c.7916G>A

NM_001008844.3

p.R2040Q

c.6119G>A

2 papers

NM_004415.4

p.Q2672*

c.8014C>T

1 paper

NM_001008844.3

p.R2040_G2041delFs

c.6118_6121del4