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.E1722*

c.5164G>T

Surrounding Variants

1 paper

NM_004415.4

p.E1721D

c.5163A>C

1 paper

NM_004415.4

p.E1721D

c.5163A>T

1 paper

NM_004415.4

p.E1723Q

c.5167G>C

3 papers

NM_004415.4

p.R1725W

c.5173C>T

1 paper

NM_004415.4

p.L1718fs

c.5152_5153fs

1 paper

NM_004415.4

p.L1718insFs

c.5152dupT

3 papers

NM_004415.4

p.N1726K

c.5178C>A

1 paper

NM_004415.4

p.N1726K

c.5178C>G

1 paper

NM_004415.4

p.H1717Y

c.5149C>T

1 paper

NM_004415.4

p.R1728_L1729ins5

c.5182_5186ins15

1 paper

NM_004415.4

p.D1732N

c.5194G>A

1 paper

NM_004415.4

p.L1709V

c.5125C>G