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

2 papers

NM_004415.4

p.S2839delFs

c.8516_8517delCC

Surrounding Variants

2 papers

NM_004415.4

p.R2838_S2839insFs

c.8514_8515insAG

2 papers

NM_004415.4

p.R2842C

c.8524C>T

25 papers

NM_004415.4

p.R2834H

c.8501G>A

1 paper

NM_004415.4

p.G2844V

c.8531G>T

2 papers

NM_004415.4

p.S2833C

c.8498C>G

1 paper

NM_004415.4

p.R2846del1

c.8536_8537delCGG

1 paper

NM_004415.4

p.G2832_R2834insFs

c.8496_8500dup5

1 paper

NM_004415.4

p.G2832V

c.8495G>T

1 paper

NM_004415.4

p.G2832*

c.8494G>T

1 paper

NM_004415.4

p.G2836_G2840del0

c.8508_8519del12

1 paper

NM_004415.4

p.S2829F

c.8486C>T

9 papers

NM_004415.4

p.S2849G

c.8545A>G