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.Q1135*

c.3403C>T

Surrounding Variants

1 paper

NM_004415.4

p.D1133E

c.3399C>A

1 paper

NM_004415.4

p.D1133E

c.3399C>G

2 papers

NM_004415.4

p.Y1139Fs

c.3415_3417delinsGFs

1 paper

NM_004415.4

p.Y1139fs

c.3415_3416fs

1 paper

NM_004415.4

p.D1130N

c.3388G>A

1 paper

NM_004415.4

p.D1140delFs

c.3419delA

1 paper

NM_004415.4

p.D1140fs

c.3418_3419fs

1 paper

NM_004415.4

p.E1129fs

c.3385_3386fs

1 paper

NM_004415.4

p.Q1141H

c.3423A>C

1 paper

NM_004415.4

p.Q1141H

c.3423A>T

1 paper

NM_004415.4

p.V1128_D1130delFs

c.3384_3388del5

1 paper

NM_004415.4

p.L1142insFs

c.3426dupG