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.E1652delFs

c.4954delG

Surrounding Variants

1 paper

NM_004415.4

p.E1652fs

c.4954_4955fs

3 papers

NM_004415.4

p.Q1648R

c.4943A>G

4 papers

NM_004415.4

p.L1654P

c.4961T>C

1 paper

NM_004415.4

p.S1658F

c.4973C>T

3 papers

NM_004415.4

p.V1639M

c.4915G>A

1 paper

NM_004415.4

p.R1666W

c.4996C>T

2 papers

NM_004415.4

p.R1666Q

c.4997G>A

2 papers

NM_004415.4

p.Q1667*

c.4999C>T

1 paper

NM_004415.4

p.L1668insFs

c.5004dupA

1 paper

NM_004415.4

p.D1631_D1632insTT

c.4891_4895ins6

1 paper

NM_004415.4

p.Q1672delFs

c.5016delG

1 paper

NM_004415.4

p.S1629I

c.4886G>T