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.L1619delFs

c.4855delC

Surrounding Variants

1 paper

NM_004415.4

p.L1615L

c.4845G>T

1 paper

NM_004415.4

p.K1626del1

c.4876_4878delAAG

1 paper

NM_004415.4

p.R1628fs

c.4882_4883fs

1 paper

NM_004415.4

p.R1628_S1629Fs

c.4882_4886delinsTTCTFs

1 paper

NM_004415.4

p.A1609fs

c.4825_4826fs

1 paper

NM_004415.4

p.Q1608insFs

c.4824dupA

2 papers

NM_004415.4

p.Q1608*

c.4822C>T

1 paper

NM_004415.4

p.S1629I

c.4886G>T

1 paper

NM_004415.4

p.D1631_D1632insTT

c.4891_4895ins6

2 papers

NM_004415.4

p.M1601I

c.4803G>A

1 paper

NM_004415.4

p.M1601I

c.4803G>C

1 paper

NM_004415.4

p.M1601I

c.4803G>T