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.E2422K

c.7264G>A

Surrounding Variants

1 paper

NM_004415.4

p.N2419S

c.7256A>G

1 paper

NM_004415.4

p.F2416fs

c.7246_7247fs

3 papers

NM_004415.4

p.F2416delFs

c.7248delT

1 paper

NM_004415.4

p.L2405F

c.7213C>T

1 paper

NM_004415.4

p.L2401L

c.7203C>G

2 papers

NM_004415.4

p.Y2396H

c.7186T>C

1 paper

NM_004415.4

p.K2449T

c.7346A>C

2 papers

NM_004415.4

p.K2450N

c.7350G>C

1 paper

NM_004415.4

p.K2450N

c.7350G>T

1 paper

NM_004415.4

p.Q2452*

c.7354C>T

1 paper

NM_004415.4

p.R2385H

c.7154G>A

1 paper

NM_004415.4

p.K2463_R2464insAC

c.7387_7391ins6