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

2 papers

NM_004415.4

p.Q1262*

c.3784C>T

Surrounding Variants

1 paper

NM_004415.4

p.A1263insFs

c.3788_3789dupCC

1 paper

NM_004415.4

p.T1264fs

c.3790_3791fs

1 paper

NM_004415.4

p.E1265*

c.3793G>T

1 paper

NM_004415.4

p.D1258E

c.3774C>A

1 paper

NM_004415.4

p.D1258E

c.3774C>G

22 papers

NM_004415.4

p.R1267*

c.3799C>T

2 papers

NM_004415.4

p.R1267Q

c.3800G>A

1 paper

NM_004415.4

p.R1268W

c.3802A>T

1 paper

NM_004415.4

p.L1256F

c.3766C>T

6 papers

NM_004415.4

p.R1255K

c.3764G>A

6 papers

NM_004415.4

p.R1269*

c.3805C>T

1 paper

NM_004415.4

p.R1269delFs

c.3806delG