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.Y42delFs

c.125delA

Surrounding Variants

1 paper

NM_004415.4

p.Y41*

c.123C>A

2 papers

NM_004415.4

p.Y41*

c.123C>G

1 paper

NM_004415.4

p.Y42Y

c.126T>C

1 paper

NM_004415.4

p.Y41insFs

c.121_122insT

1 paper

NM_004415.4

p.R44Q

c.131G>A

1 paper

NM_004415.4

p.R39_Y41delFs

c.117_123del7

3 papers

NM_004415.4

p.R45C

c.133C>T

1 paper

NM_004415.4

p.R45H

c.134G>A

3 papers

NM_004415.4

p.G46D

c.137G>A

1 paper

NM_004415.4

p.G36C

c.106G>T

1 paper

NM_004415.4

p.G36fs

c.106_107fs

1 paper

NM_004415.4

p.D50_Q51delFs

c.148_151del4