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.K2449T

c.7346A>C

Surrounding Variants

2 papers

NM_004415.4

p.K2450N

c.7350G>C

1 paper

NM_004415.4

p.K2450N

c.7350G>T

1 paper

NM_004415.4

p.Q2452*

c.7354C>T

1 paper

NM_004415.4

p.K2463_R2464insAC

c.7387_7391ins6

1 paper

NM_004415.4

p.K2463E

c.7387A>G

1 paper

NM_004415.4

p.R2464_R2465insCA

c.7390_7394ins6

1 paper

NM_004415.4

p.R2465*

c.7393A>T

1 paper

NM_004415.4

p.R2465K

c.7394G>A

1 paper

NM_004415.4

p.P2471L

c.7412C>T

1 paper

NM_004415.4

p.T2473I

c.7418C>T

1 paper

NM_004415.4

p.E2476V

c.7427A>T

1 paper

NM_004415.4

p.E2422K

c.7264G>A