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.M1V

c.1A>G

Surrounding Variants

2 papers

NM_004415.4

p.M1insFs

c.1_2insC

1 paper

NM_004415.4

p.M1fs

c.1_2fs

2 papers

NM_004415.4

p.M1_S2insC

c.1_5ins3

1 paper

NM_004415.4

p.M1insFs

c.2dupT

1 paper

NM_004415.4

p.M1L

c.1A>C

2 papers

NM_004415.4

p.M1L

c.1A>T

1 paper

NM_004415.4

p.M1delFs

c.2delT

3 papers

NM_004415.4

p.M1insFs

c.1_2insA

1 paper

NM_004415.4

p.M1K

c.2T>A

2 papers

NM_004415.4

p.M1T

c.2T>C

2 papers

NM_004415.4

p.S2N

c.5G>A

1 paper

NM_004415.4

p.S2I

c.5G>T