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

4 papers

NM_004415.4

p.E1833V

c.5498A>T

Surrounding Variants

1 paper

NM_004415.4

p.Q1830*

c.5488C>T

1 paper

NM_004415.4

p.R1828S

c.5484G>T

3 papers

NM_004415.4

p.R1838H

c.5513G>A

1 paper

NM_004415.4

p.A1827T

c.5479G>A

1 paper

NM_004415.4

p.Q1824delFs

c.5472delA

1 paper

NM_004415.4

p.V1821fs

c.5461_5462fs

1 paper

NM_004415.4

p.V1821_E1823del3

c.5461_5468del9

1 paper

NM_004415.4

p.K1820R

c.5459A>G

1 paper

NM_004415.4

p.K1820_L1822delFs

c.5460_5466del7

1 paper

NM_004415.4

p.E1846D

c.5538A>C

1 paper

NM_004415.4

p.E1846D

c.5538A>T

1 paper

NM_004415.4

p.E1854Q

c.5560G>C