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.V1530I

c.4588G>A

Surrounding Variants

1 paper

NM_004415.4

p.V1530F

c.4588G>T

1 paper

NM_004415.4

p.Q1533*

c.4597C>T

2 papers

NM_004415.4

p.N1526K

c.4578C>A

1 paper

NM_004415.4

p.N1526K

c.4578C>G

5 papers

NM_004415.4

p.R1537C

c.4609C>T

1 paper

NM_004415.4

p.R1537H

c.4610G>A

3 papers

NM_004415.4

p.T1522M

c.4565C>T

1 paper

NM_004415.4

p.S1520G

c.4558A>G

1 paper

NM_004415.4

p.S1520C

c.4558A>T

1 paper

NM_004415.4

p.D1541N

c.4621G>A

2 papers

NM_004415.4

p.L1514P

c.4541T>C

1 paper

NM_004415.4

p.Y1512*

c.4536T>A