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

3 papers

NM_004415.4

p.Y1169*

c.3507C>A

Surrounding Variants

2 papers

NM_004415.4

p.Y1169*

c.3507C>G

1 paper

NM_004415.4

p.Y1169C

c.3506A>G

1 paper

NM_004415.4

p.E1170_L1174delFs

c.3509_3521del13

1 paper

NM_004415.4

p.E1168_E1170insFs

c.3504_3508dup5

2 papers

NM_004415.4

p.I1171T

c.3512T>C

1 paper

NM_004415.4

p.K1165fs

c.3493_3494fs

1 paper

NM_004415.4

p.V1176delFs

c.3526delG

1 paper

NM_004415.4

p.I1164_E1166delFs

c.3492_3498del7

1 paper

NM_004415.4

p.V1176fs

c.3526_3527fs

1 paper

NM_004415.4

p.V1176fs

c.3526_3527fs

1 paper

NM_004415.4

p.L1177Q

c.3530T>A

1 paper

NM_004415.4

p.L1178R

c.3533T>G