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.Q1311_S1312delFs

c.3932_3936del5

Surrounding Variants

3 papers

NM_004415.4

p.H1309fs

c.3925_3926fs

5 papers

NM_004415.4

p.R1308Q

c.3923G>A

7 papers

NM_004415.4

p.R1308delFs

c.3924delG

1 paper

NM_004415.4

p.R1302H

c.3905G>A

1 paper

NM_004415.4

p.T1319S

c.3956C>G

1 paper

NM_004415.4

p.R1302C

c.3904C>T

4 papers

NM_004415.4

p.Q1301*

c.3901C>T

1 paper

NM_004415.4

p.Q1321*

c.3961C>T

1 paper

NM_004415.4

p.Q1321Q

c.3963G>A

1 paper

NM_004415.4

p.M1299T

c.3896T>C

2 papers

NM_004415.4

p.Q1297*

c.3889C>T

1 paper

NM_004415.4

p.Q1289*

c.3865C>T