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.Q1944*

c.5830C>T

Surrounding Variants

1 paper

NM_004415.4

p.R1945H

c.5834G>A

1 paper

NM_004415.4

p.P1946S

c.5836C>T

1 paper

NM_004415.4

p.P1946L

c.5837C>T

2 papers

NM_004415.4

p.K1941T

c.5822A>C

1 paper

NM_004415.4

p.Y1947F

c.5840A>T

1 paper

NM_004415.4

p.R1951delFs

c.5851_5852delCG

1 paper

NM_004415.4

p.R1951fs

c.5851_5852fs

8 papers

NM_004415.4

p.R1951*

c.5851C>T

1 paper

NM_004415.4

p.R1951Q

c.5852G>A

1 paper

NM_004415.4

p.Q1936*

c.5806C>T

1 paper

NM_004415.4

p.E1952fs

c.5854_5855fs

1 paper

NM_004415.4

p.E1952delFs

c.5855delA