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.D2579H

c.7735G>C

Surrounding Variants

1 paper

NM_004415.4

p.D2580Y

c.7738G>T

1 paper

NM_004415.4

p.F2582delFs

c.7745_7746delTT

1 paper

NM_004415.4

p.F2582C

c.7745T>G

6 papers

NM_004415.4

p.R2586*

c.7756C>T

2 papers

NM_004415.4

p.S2591_K2592delFs

c.7773_7776del4

1 paper

NM_004415.4

p.G2568S

c.7702G>A

1 paper

NM_004415.4

p.V2567fs

c.7699_7700fs

1 paper

NM_004415.4

p.G2566insFs

c.7697_7698insG

3 papers

NM_004415.4

p.S2594delFs

c.7780delT

1 paper

NM_004415.4

p.S2594fs

c.7780_7781fs

3 papers

NM_004415.4

p.T2595I

c.7784C>T

1 paper

NM_001008844.3

p.S1999insFs

c.5995_5996insG