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.A1074V

c.3221C>T

Surrounding Variants

1 paper

NM_004415.4

p.L1076F

c.3226C>T

2 papers

NM_004415.4

p.Q1071*

c.3211C>T

1 paper

NM_004415.4

p.E1080delFs

c.3239delA

1 paper

NM_004415.4

p.C1069delFs

c.3206_3207delGT

1 paper

NM_004415.4

p.E1068fs

c.3202_3203fs

1 paper

NM_004415.4

p.E1081*

c.3241G>T

3 papers

NM_004415.4

p.A1067_E1068delFs

c.3201_3202delAG

1 paper

NM_004415.4

p.A1067_E1068del2

c.3199_3203del6

1 paper

NM_004415.4

p.Y1065*

c.3195C>A

1 paper

NM_004415.4

p.Y1065*

c.3195C>G

1 paper

NM_004415.4

p.Q1085H

c.3255G>C

1 paper

NM_004415.4

p.Q1085H

c.3255G>T