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.R1681K

c.5042G>A

Surrounding Variants

10 papers

NM_004415.4

p.H1684R

c.5051A>G

1 paper

NM_004415.4

p.Q1677fs

c.5029_5030fs

1 paper

NM_004415.4

p.K1687E

c.5059A>G

3 papers

NM_004415.4

p.K1676_Q1677delFs

c.5028_5031del4

1 paper

NM_004415.4

p.A1688T

c.5062G>A

1 paper

NM_004415.4

p.S1674G

c.5020A>G

1 paper

NM_004415.4

p.Q1672delFs

c.5016delG

1 paper

NM_004415.4

p.L1668insFs

c.5004dupA

2 papers

NM_004415.4

p.Q1667*

c.4999C>T

2 papers

NM_004415.4

p.R1666Q

c.4997G>A

1 paper

NM_004415.4

p.R1666W

c.4996C>T

1 paper

NM_004415.4

p.E1698D

c.5094A>C