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.P2814S

c.8440C>T

Surrounding Variants

1 paper

NM_004415.4

p.P2814insFs

c.8442dupC

1 paper

NM_004415.4

p.S2815fs

c.8443_8444fs

1 paper

NM_004415.4

p.Y2817_M2819delFs

c.8450_8457del8

1 paper

NM_004415.4

p.Y2817*

c.8451C>A

1 paper

NM_004415.4

p.Y2817*

c.8451C>G

1 paper

NM_004415.4

p.S2809L

c.8426C>T

1 paper

NM_004415.4

p.M2819L

c.8455A>C

1 paper

NM_004415.4

p.M2819V

c.8455A>G

2 papers

NM_004415.4

p.G2824_G2828delFs

c.8471_8483del13

1 paper

NM_004415.4

p.A2805A

c.8415C>T

1 paper

NM_004415.4

p.A2805V

c.8414C>T

1 paper

NM_004415.4

p.P2823A

c.8467C>G