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.A261V

c.782C>T

Surrounding Variants

1 paper

NM_004415.4

p.F263insFs

c.787_788insTT

1 paper

NM_004415.4

p.E264*

c.790G>T

1 paper

NM_004415.4

p.R265S

c.795G>C

1 paper

NM_004415.4

p.M266L

c.796A>C

1 paper

NM_004415.4

p.M266L

c.796A>T

1 paper

NM_004415.4

p.H268L

c.803A>T

1 paper

NM_004415.4

p.L272_Q273delins

c.816_817delinsAT

1 paper

NM_004415.4

p.Q273insFs

c.818dupA

1 paper

NM_004415.4

p.Q273fs

c.817_818fs

1 paper

NM_004415.4

p.Q273*

c.817C>T

2 papers

NM_004415.4

p.N274fs

c.820_821fs

1 paper

NM_004415.4

p.I275_I276del1

c.825_827delCAT