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

11 papers

NM_004415.4

p.S313_I314Splc

c.939+1G>A

Surrounding Variants

1 paper

NM_004415.4

p.S313_I314Splc

c.939+5G>T

1 paper

NM_004415.4

p.S313del1

c.937_938delTCC

1 paper

NM_004415.4

p.E310fs

c.928_929fs

1 paper

NM_004415.4

p.E310insFs

c.928dupG

2 papers

NM_004415.4

p.Q307*

c.919C>T

1 paper

NM_004415.4

p.A306T

c.916G>A

1 paper

NM_004415.4

p.A306delFs

c.917_918delCT

5 papers

NM_004415.4

p.I305F

c.913A>T

1 paper

NM_004415.4

p.N302I

c.905A>T

1 paper

NM_004415.4

p.D300E

c.900C>A

28 papers

NM_004415.4

p.S299R

c.897C>A

28 papers

NM_004415.4

p.S299R

c.897C>G