Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.M949T

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.M949T
c.2846T>C
Surrounding Variants
4 papers
NM_014846.4
p.K950R
c.2849A>G
1 paper
NM_014846.4
p.A924T
c.2770G>A
1 paper
NM_014846.4
p.A924Splc
c.2770+43C>T
1 paper
NM_014846.4
p.A924T
c.2770G>A
1 paper
NM_014846.4
p.P918S
c.2752C>T
1 paper
NM_014846.4
p.L912I
c.2734C>A
1 paper
NM_014846.4
p.Q889_N890Splc
c.2668-1G>A
2 papers
NM_014846.4
p.F882Y
c.2645T>A
5 papers
NM_014846.4
p.F882V
c.2644T>G
1 paper
NM_014846.4
p.T870T
c.2610C>A
2 papers
NM_014846.4
p.T866I
c.2597C>T
1 paper
NM_014846.4
p.I864L
c.2590A>C
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