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.L1348R

c.4043T>G

Surrounding Variants

2 papers

NM_004415.4

p.L1348delFs

c.4042delC

1 paper

NM_004415.4

p.E1345A

c.4034A>C

1 paper

NM_004415.4

p.R1352*

c.4054A>T

1 paper

NM_004415.4

p.E1343fs

c.4027_4028fs

2 papers

NM_004415.4

p.W1342*

c.4026G>A

2 papers

NM_004415.4

p.W1342*

c.4025G>A

3 papers

NM_004415.4

p.R1341H

c.4022G>A

1 paper

NM_004415.4

p.R1340P

c.4019G>C

1 paper

NM_004415.4

p.R1340C

c.4018C>T

1 paper

NM_004415.4

p.E1357D

c.4071G>C

1 paper

NM_004415.4

p.E1357D

c.4071G>T

2 papers

NM_004415.4

p.A1338T

c.4012G>A