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.Q2527K

c.7579C>A

Surrounding Variants

1 paper

NM_004415.4

p.T2524fs

c.7570_7571fs

1 paper

NM_004415.4

p.K2523fs

c.7567_7568fs

1 paper

NM_004415.4

p.K2523_T2524delFs

c.7568_7571del4

4 papers

NM_004415.4

p.R2522_K2523Fs

c.7566_7567delinsCFs

4 papers

NM_004415.4

p.R2522fs

c.7564_7565fs

1 paper

NM_004415.4

p.A2533G

c.7598C>G

2 papers

NM_004415.4

p.D2521_R2522del2

c.7561_7565del6

1 paper

NM_004415.4

p.D2521_R2522delFs

c.7563_7566del4

1 paper

NM_004415.4

p.I2534_D2535delFs

c.7602_7605del4

1 paper

NM_004415.4

p.D2535G

c.7604A>G

2 papers

NM_004415.4

p.V2518I

c.7552G>A

1 paper

NM_004415.4

p.V2539A

c.7616T>C