Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5

WASHC5

196 papers

RefSeq Summary

This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest...

Pfam Domains

Strumpellinaa 23–1103UCSCHereditary spastic paraplegia protein strumpellin

Gene Aliases

HGNC Name

WASH complex subunit 5

HGNC Previous Symbols

SPG8; KIAA0196

Papers
RefSeq ID
Protein change
DNA change
1–12 of 270 variants
27 papers
NM_014846.4
p.V626F
c.1876G>T
26 papers
NM_014846.4
p.N471D
c.1411A>G
21 papers
NM_014846.4
p.L619F
c.1857G>C
20 papers
NM_014846.4
p.L619F
c.1857G>T
11 papers
NM_014846.4
p.V620A
c.1859T>C
10 papers
NM_014846.4
p.S591P
c.1771T>C
10 papers
NM_014846.4
p.G696A
c.2087G>C
9 papers
NM_014846.4
p.I226T
c.677T>C
8 papers
NM_014846.4
p.P216L
c.647C>T
8 papers
NM_014846.4
p.R583S
c.1749A>C
8 papers
NM_014846.4
p.R1035C
c.3103C>T
7 papers
NM_014846.4
p.R583S
c.1749A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."