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.R2123C

c.6367C>T

Surrounding Variants

2 papers

NM_004415.4

p.Q2128H

c.6384G>C

2 papers

NM_004415.4

p.Q2128H

c.6384G>T

1 paper

NM_004415.4

p.L2115F

c.6345G>C

1 paper

NM_004415.4

p.L2115F

c.6345G>T

2 papers

NM_004415.4

p.S2131_G2132del2

c.6391_6395del6

1 paper

NM_004415.4

p.S2131_G2132del1

c.6392_6394delCAG

2 papers

NM_004415.4

p.S2131delFs

c.6393delA

1 paper

NM_004415.4

p.G2133insFs

c.6398dupG

1 paper

NM_004415.4

p.G2133S

c.6397G>A

2 papers

NM_004415.4

p.G2133fs

c.6397_6398fs

1 paper

NM_004415.4

p.V2134fs

c.6400_6401fs

2 papers

NM_004415.4

p.I2111T

c.6332T>C