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

3 papers

NM_004415.4

p.I2347V

c.7039A>G

Surrounding Variants

6 papers

NM_004415.4

p.E2343K

c.7027G>A

1 paper

NM_004415.4

p.G2338R

c.7012G>A

1 paper

NM_004415.4

p.G2338R

c.7012G>C

1 paper

NM_004415.4

p.R2334*

c.7000C>T

1 paper

NM_004415.4

p.G2364delFs

c.7091delG

1 paper

NM_004415.4

p.R2366_L2368delFs

c.7096_7103del8

2 papers

NM_004415.4

p.L2329P

c.6986T>C

1 paper

NM_004415.4

p.R2366G

c.7096C>G

20 papers

NM_004415.4

p.R2366C

c.7096C>T

6 papers

NM_004415.4

p.R2366H

c.7097G>A

1 paper

NM_004415.4

p.Q2371_A2373delFs

c.7113_7119del7

2 papers

NM_004415.4

p.I2323T

c.6968T>C