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

6 papers

NM_004415.4

p.Q1511*

c.4531C>T

Surrounding Variants

6 papers

NM_004415.4

p.Y1512C

c.4535A>G

1 paper

NM_004415.4

p.Y1512*

c.4536T>A

1 paper

NM_004415.4

p.Y1512*

c.4536T>G

1 paper

NM_004415.4

p.R1509insFs

c.4525dupA

2 papers

NM_004415.4

p.L1514P

c.4541T>C

2 papers

NM_004415.4

p.R1506delFs

c.4518delA

1 paper

NM_004415.4

p.R1506fs

c.4516_4517fs

1 paper

NM_004415.4

p.A1505A

c.4515G>A

1 paper

NM_004415.4

p.A1505insFs

c.4514_4515insT

2 papers

NM_004415.4

p.A1505T

c.4513G>A

1 paper

NM_004415.4

p.S1520G

c.4558A>G

1 paper

NM_004415.4

p.S1520C

c.4558A>T