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.E1891_K1892delFs

c.5673_5674delGA

Surrounding Variants

1 paper

NM_004415.4

p.E1891_K1892delFs

c.5671_5674del4

1 paper

NM_004415.4

p.K1887fs

c.5659_5660fs

1 paper

NM_004415.4

p.K1892fs

c.5674_5675fs

2 papers

NM_004415.4

p.S1894_L1895delFs

c.5680_5683del4

2 papers

NM_004415.4

p.S1894fs

c.5680_5681fs

1 paper

NM_001319034.2

p.E1439_S1440insFs

c.4315_4318dup4

1 paper

NM_004415.4

p.I1881T

c.5642T>C

1 paper

NM_004415.4

p.E1898Q

c.5692G>C

1 paper

NM_004415.4

p.A1877T

c.5629G>A

1 paper

NM_004415.4

p.A1904fs

c.5710_5711fs

6 papers

NM_004415.4

p.R1873C

c.5617C>T

1 paper

NM_004415.4

p.S1872S

c.5616C>A