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.R2166Q

c.6497G>A

Surrounding Variants

1 paper

NM_004415.4

p.Q2169insFs

c.6506_6507ins10

2 papers

NM_004415.4

p.R2166*

c.6496C>T

1 paper

NM_004415.4

p.S2168_Q2169delFs

c.6504_6507del4

1 paper

NM_004415.4

p.S2168G

c.6502A>G

2 papers

NM_004415.4

p.K2170_N2171insFs

c.6510_6511insCT

2 papers

NM_004415.4

p.N2171fs

c.6511_6512fs

1 paper

NM_004415.4

p.S2161F

c.6482C>T

6 papers

NM_004415.4

p.R2160*

c.6478C>T

1 paper

NM_004415.4

p.R2156fs

c.6466_6467fs

1 paper

NM_004415.4

p.R2156insFs

c.6466dupA

1 paper

NM_004415.4

p.K2179insFs

c.6535dupA

1 paper

NM_004415.4

p.L2153fs

c.6457_6458fs