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.L2487_I2488delFs

c.7461_7464del4

Surrounding Variants

1 paper

NM_004415.4

p.L2487R

c.7460T>G

1 paper

NM_004415.4

p.Y2490delFs

c.7469delA

1 paper

NM_004415.4

p.E2495K

c.7483G>A

1 paper

NM_004415.4

p.L2496M

c.7486C>A

1 paper

NM_004415.4

p.C2497_E2498delFs

c.7491_7492delTG

1 paper

NM_004415.4

p.M2477_S2478delFs

c.7430_7433del4

1 paper

NM_004415.4

p.C2497R

c.7489T>C

1 paper

NM_004415.4

p.C2497fs

c.7489_7490fs

1 paper

NM_004415.4

p.E2476V

c.7427A>T

1 paper

NM_004415.4

p.C2497*

c.7491T>A

1 paper

NM_004415.4

p.T2473I

c.7418C>T

1 paper

NM_004415.4

p.E2502del1

c.7504_7505delGAA