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.E1385delFs

c.4153delG

Surrounding Variants

1 paper

NM_004415.4

p.K1384insFs

c.4150dupA

1 paper

NM_004415.4

p.T1381S

c.4141A>T

1 paper

NM_004415.4

p.I1377T

c.4130T>C

1 paper

NM_004415.4

p.Y1391*

c.4173C>A

1 paper

NM_004415.4

p.Y1391*

c.4173C>G

4 papers

NM_004415.4

p.R1392Q

c.4175G>A

4 papers

NM_004415.4

p.T1373A

c.4117A>G

2 papers

NM_004415.4

p.E1369K

c.4105G>A

14 papers

NM_004415.4

p.R1400*

c.4198C>T

1 paper

NM_004415.4

p.T1368I

c.4103C>T

1 paper

NM_004415.4

p.E1369_I1372del4

c.4105_4115del12

1 paper

NM_004415.4

p.T1368S

c.4102A>T