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.L2115F

c.6345G>T

Surrounding Variants

1 paper

NM_004415.4

p.L2115F

c.6345G>C

2 papers

NM_004415.4

p.I2111T

c.6332T>C

2 papers

NM_004415.4

p.A2110T

c.6328G>A

1 paper

NM_004415.4

p.A2110P

c.6328G>C

1 paper

NM_004415.4

p.S2108*

c.6323C>A

1 paper

NM_004415.4

p.S2108*

c.6323C>G

1 paper

NM_004415.4

p.R2123C

c.6367C>T

1 paper

NM_004415.4

p.T2104insFs

c.6311_6312insT

3 papers

NM_004415.4

p.T2104fs

c.6310_6311fs

9 papers

NM_004415.4

p.T2104fs

c.6310_6311fs

17 papers

NM_004415.4

p.T2104delFs

c.6310delA

2 papers

NM_004415.4

p.K2103E

c.6307A>G