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.R19G

c.55C>G

Surrounding Variants

1 paper

NM_004415.4

p.A20_P24delFs

c.58_70del13

2 papers

NM_004415.4

p.I18N

c.53T>A

1 paper

NM_004415.4

p.I18T

c.53T>C

1 paper

NM_004415.4

p.I18S

c.53T>G

1 paper

NM_004415.4

p.M17R

c.50T>G

1 paper

NM_004415.4

p.E21Q

c.61G>C

3 papers

NM_004415.4

p.R16C

c.46C>T

1 paper

NM_004415.4

p.S22C

c.65C>G

2 papers

NM_004415.4

p.T13I

c.38C>T

1 paper

NM_004415.4

p.L26_R27insFs

c.77_80dup4

1 paper

NM_004415.4

p.I11insFs

c.32dupT

1 paper

NM_004415.4

p.Y28delFs

c.82delT