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.L1563fs

c.4687_4688fs

Surrounding Variants

1 paper

NM_004415.4

p.L1563fs

c.4687_4688fs

2 papers

NM_004415.4

p.N1561_S1562delFs

c.4683_4684delCT

1 paper

NM_004415.4

p.E1565_Q1567del0

c.4694_4699del6

1 paper

NM_004415.4

p.Q1560_N1561del2

c.4678_4682del6

1 paper

NM_004415.4

p.T1557M

c.4670C>T

1 paper

NM_004415.4

p.Q1571*

c.4711C>T

1 paper

NM_004415.4

p.D1553N

c.4657G>A

1 paper

NM_004415.4

p.V1551E

c.4652T>A

2 papers

NM_004415.4

p.T1550_V1551delFs

c.4650_4651delTG

1 paper

NM_004415.4

p.E1548Q

c.4642G>C

3 papers

NM_004415.4

p.K1581E

c.4741A>G

2 papers

NM_004415.4

p.A1584T

c.4750G>A