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.T2267S

c.6800C>G

Surrounding Variants

4 papers

NM_004415.4

p.T2267S

c.6799A>T

1 paper

NM_004415.4

p.I2263T

c.6788T>C

1 paper

NM_004415.4

p.G2262delFs

c.6785delG

1 paper

NM_004415.4

p.E2276_A2277insA

c.6826_6830ins3

12 papers

NM_004415.4

p.R2284*

c.6850C>T

1 paper

NM_004415.4

p.I2241fs

c.6721_6722fs

5 papers

NM_004415.4

p.A2294G

c.6881C>G

2 papers

NM_004415.4

p.Q2295H

c.6885A>C

2 papers

NM_004415.4

p.Q2295H

c.6885A>T

1 paper

NM_004415.4

p.T2298N

c.6893C>A

1 paper

NM_004415.4

p.V2233fs

c.6697_6698fs

1 paper

NM_004415.4

p.V2233delFs

c.6697_6698delGT