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.G2338R

c.7012G>C

Surrounding Variants

1 paper

NM_004415.4

p.G2338R

c.7012G>A

1 paper

NM_004415.4

p.R2334*

c.7000C>T

6 papers

NM_004415.4

p.E2343K

c.7027G>A

2 papers

NM_004415.4

p.L2329P

c.6986T>C

3 papers

NM_004415.4

p.I2347V

c.7039A>G

2 papers

NM_004415.4

p.I2323T

c.6968T>C

1 paper

NM_004415.4

p.G2319fs

c.6955_6956fs

1 paper

NM_004415.4

p.R2318T

c.6953G>C

1 paper

NM_004415.4

p.R2318_G2319delFs

c.6954_6955delAG

1 paper

NM_004415.4

p.E2314*

c.6940G>T

2 papers

NM_004415.4

p.E2313fs

c.6937_6938fs

1 paper

NM_004415.4

p.G2364delFs

c.7091delG