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.I1749_L1750delFs

c.5247_5248delCT

Surrounding Variants

1 paper

NM_004415.4

p.L1750_E1751delFs

c.5250_5251delGG

2 papers

NM_004415.4

p.T1748delFs

c.5242delA

1 paper

NM_004415.4

p.Q1755_L1756ins8

c.5263_5267ins24

1 paper

NM_004415.4

p.Q1757*

c.5269C>T

1 paper

NM_004415.4

p.A1741T

c.5221G>A

3 papers

NM_004415.4

p.E1740K

c.5218G>A

10 papers

NM_004415.4

p.R1738Q

c.5213G>A

4 papers

NM_004415.4

p.R1738*

c.5212C>T

2 papers

NM_004415.4

p.G1737fs

c.5209_5210fs

2 papers

NM_004415.4

p.G1737delFs

c.5210delG

1 paper

NM_004415.4

p.R1762Q

c.5285G>A

4 papers

NM_004415.4

p.R1736_G1737delFs

c.5208_5209delAG