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.L1451insFs

c.4352dupT

Surrounding Variants

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

2 papers

NM_004415.4

p.Q1453*

c.4357C>T

1 paper

NM_004415.4

p.Q1453P

c.4358A>C

5 papers

NM_004415.4

p.Q1446*

c.4336C>T

1 paper

NM_004415.4

p.Q1456*

c.4366C>T

1 paper

NM_004415.4

p.R1458G

c.4372C>G

7 papers

NM_004415.4

p.R1458*

c.4372C>T

1 paper

NM_004415.4

p.R1458Q

c.4373G>A

1 paper

NM_004415.4

p.E1461E

c.4383G>A

3 papers

NM_004415.4

p.S1462I

c.4385G>T