Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.L598F

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
3 papers
NM_014846.4
p.L598F
c.1792C>T
Surrounding Variants
1 paper
NM_014846.4
p.R599S
c.1795C>A
1 paper
NM_014846.4
p.D594Y
c.1780G>T
1 paper
NM_014846.4
p.D594N
c.1780G>A
2 papers
NM_014846.4
p.S591F
c.1772C>T
10 papers
NM_014846.4
p.S591P
c.1771T>C
1 paper
NM_014846.4
p.P606S
c.1816C>T
1 paper
NM_014846.4
p.L609fs
c.1825_1826fs
1 paper
NM_014846.4
p.Y615_S616delFs
c.1845_1848del4
1 paper
NM_014846.4
p.L609_G617delFs
c.1825_1850del26
20 papers
NM_014846.4
p.L619F
c.1857G>T
21 papers
NM_014846.4
p.L619F
c.1857G>C
11 papers
NM_014846.4
p.V620A
c.1859T>C
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