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

2 papers

NM_004415.4

p.T2220P

c.6658A>C

Surrounding Variants

1 paper

NM_004415.4

p.V2219I

c.6655G>A

1 paper

NM_004415.4

p.D2224_T2232del0

c.6671_6694del24

5 papers

NM_004415.4

p.R2229fs

c.6685_6686fs

6 papers

NM_004415.4

p.R2229delFs

c.6687delA

1 paper

NM_004415.4

p.M2208T

c.6623T>C

1 paper

NM_004415.4

p.V2233delFs

c.6697_6698delGT

1 paper

NM_004415.4

p.V2233fs

c.6697_6698fs

1 paper

NM_004415.4

p.V2203L

c.6607G>C

1 paper

NM_004415.4

p.V2203L

c.6607G>T

1 paper

NM_004415.4

p.S2202*

c.6605C>A

1 paper

NM_004415.4

p.S2202*

c.6605C>G

1 paper

NM_004415.4

p.S2202delFs

c.6605delC