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.Q1790H

c.5370G>C

Surrounding Variants

1 paper

NM_004415.4

p.E1793insFs

c.5378_5379dupAG

2 papers

NM_004415.4

p.Q1788R

c.5363A>G

1 paper

NM_004415.4

p.R1777fs

c.5329_5330fs

1 paper

NM_004415.4

p.E1776V

c.5327A>T

2 papers

NM_004415.4

p.E1776fs

c.5326_5327fs

4 papers

NM_004415.4

p.R1775I

c.5324G>T

1 paper

NM_004415.4

p.Q1774delFs

c.5321_5322delAG

2 papers

NM_004415.4

p.E1776_R1777delFs

c.5327_5330del4

1 paper

NM_004415.4

p.L1773fs

c.5317_5318fs

1 paper

NM_004415.4

p.L1773delFs

c.5318delT

1 paper

NM_004415.4

p.I1770insFs

c.5309_5310insG

1 paper

NM_004415.4

p.L1764P

c.5291T>C