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.D1251N

c.3751G>A

Surrounding Variants

1 paper

NM_004415.4

p.D1251delFs

c.3751delG

1 paper

NM_004415.4

p.D1248fs

c.3742_3743fs

3 papers

NM_004415.4

p.R1247*

c.3739C>T

6 papers

NM_004415.4

p.R1255K

c.3764G>A

1 paper

NM_004415.4

p.L1256F

c.3766C>T

3 papers

NM_004415.4

p.N1246insFs

c.3737dupA

1 paper

NM_004415.4

p.E1245fs

c.3733_3734fs

3 papers

NM_004415.4

p.E1245_R1247insFs

c.3735_3741dup7

1 paper

NM_004415.4

p.E1245delFs

c.3733delG

1 paper

NM_004415.4

p.D1258E

c.3774C>A

1 paper

NM_004415.4

p.D1258E

c.3774C>G

1 paper

NM_004415.4

p.L1242fs

c.3724_3725fs