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.T1217M

c.3650C>T

Surrounding Variants

1 paper

NM_004415.4

p.I1216V

c.3646A>G

1 paper

NM_004415.4

p.T1219_T1220delFs

c.3655_3658del4

1 paper

NM_004415.4

p.N1215S

c.3644A>G

1 paper

NM_004415.4

p.T1220I

c.3659C>T

2 papers

NM_004415.4

p.Y1210*

c.3630T>A

2 papers

NM_004415.4

p.Y1210*

c.3630T>G

2 papers

NM_004415.4

p.N1208K

c.3624C>A

2 papers

NM_004415.4

p.N1208K

c.3624C>G

2 papers

NM_004415.4

p.Q1227*

c.3679C>T

1 paper

NM_004415.4

p.R1207K

c.3620G>A

1 paper

NM_004415.4

p.L1206I

c.3616T>A

1 paper

NM_004415.4

p.D1230Y

c.3688G>T