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

4 papers

NM_004415.4

p.N1234S

c.3701A>G

Surrounding Variants

3 papers

NM_004415.4

p.R1236G

c.3706A>G

2 papers

NM_004415.4

p.N1234delFs

c.3700delA

1 paper

NM_004415.4

p.D1230Y

c.3688G>T

1 paper

NM_004415.4

p.L1239F

c.3715C>T

1 paper

NM_004415.4

p.L1242_R1247delFs

c.3724_3739del16

2 papers

NM_004415.4

p.Q1227*

c.3679C>T

1 paper

NM_004415.4

p.L1242fs

c.3724_3725fs

1 paper

NM_004415.4

p.E1245delFs

c.3733delG

3 papers

NM_004415.4

p.E1245_R1247insFs

c.3735_3741dup7

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.R1247*

c.3739C>T