Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.T585_F586delFs

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
Selected Variant
1 paper
NM_014846.4
p.T585_F586delFs
c.1755_1758del4
Surrounding Variants
7 papers
NM_014846.4
p.R583S
c.1749A>T
8 papers
NM_014846.4
p.R583S
c.1749A>C
2 papers
NM_014846.4
p.R583G
c.1747A>G
3 papers
NM_014846.4
p.N575K
c.1725T>G
3 papers
NM_014846.4
p.N575K
c.1725T>A
1 paper
NM_014846.4
p.I572delFs
c.1714_1715delAT
1 paper
NM_014846.4
p.E570K
c.1708G>A
2 papers
NM_014846.4
p.M568I
c.1704G>T
3 papers
NM_014846.4
p.M568I
c.1704G>C
2 papers
NM_014846.4
p.M568I
c.1704G>A
5 papers
NM_014846.4
p.A557T
c.1669G>A
1 paper
NM_014846.4
p.V544_M548delFs
c.1630_1643del14
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