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.N2855I

c.8564A>T

Surrounding Variants

1 paper

NM_004415.4

p.G2854E

c.8561G>A

2 papers

NM_004415.4

p.S2859fs

c.8575_8576fs

1 paper

NM_004415.4

p.Y2860C

c.8579A>G

1 paper

NM_004415.4

p.S2861delFs

c.8583delC

9 papers

NM_004415.4

p.S2849G

c.8545A>G

2 papers

NM_004415.4

p.Y2862fs

c.8584_8585fs

2 papers

NM_004415.4

p.Y2862delFs

c.8586delC

2 papers

NM_004415.4

p.S2863fs

c.8587_8588fs

2 papers

NM_004415.4

p.S2863fs

c.8587_8588fs

1 paper

NM_004415.4

p.R2846del1

c.8536_8537delCGG

1 paper

NM_004415.4

p.G2844V

c.8531G>T

2 papers

NM_004415.4

p.R2842C

c.8524C>T