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.I1703F

c.5107A>T

Surrounding Variants

1 paper

NM_004415.4

p.E1698D

c.5094A>C

2 papers

NM_004415.4

p.Q1707R

c.5120A>G

1 paper

NM_004415.4

p.E1698D

c.5094A>T

1 paper

NM_004415.4

p.Q1707L

c.5120A>T

1 paper

NM_004415.4

p.L1709delFs

c.5126_5127delTC

1 paper

NM_004415.4

p.L1709V

c.5125C>G

1 paper

NM_004415.4

p.H1717Y

c.5149C>T

1 paper

NM_004415.4

p.L1718insFs

c.5152dupT

1 paper

NM_004415.4

p.A1688T

c.5062G>A

1 paper

NM_004415.4

p.L1718fs

c.5152_5153fs

1 paper

NM_004415.4

p.K1687E

c.5059A>G

1 paper

NM_004415.4

p.E1721D

c.5163A>C