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.S1438_E1439delFs

c.4314_4315delTG

Surrounding Variants

1 paper

NM_004415.4

p.E1439_V1440insFs

c.4315_4318dup4

1 paper

NM_004415.4

p.T1436fs

c.4306_4307fs

1 paper

NM_004415.4

p.A1435_G1437delFs

c.4305_4309del5

2 papers

NM_004415.4

p.A1435P

c.4303G>C

3 papers

NM_004415.4

p.Q1433*

c.4297C>T

5 papers

NM_004415.4

p.Q1446*

c.4336C>T

1 paper

NM_004415.4

p.L1451insFs

c.4352dupT

3 papers

NM_004415.4

p.R1425K

c.4274G>A

1 paper

NM_004415.4

p.L1451_Q1453delFs

c.4353_4357del5

1 paper

NM_004415.4

p.R1452*

c.4354A>T

1 paper

NM_004415.4

p.R1452fs

c.4354_4355fs

1 paper

NM_004415.4

p.R1424K

c.4271G>A