Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.N206K

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.N206K
c.618C>A
Surrounding Variants
1 paper
NM_014846.4
p.N206K
c.618C>G
1 paper
NM_014846.4
p.N206S
c.617A>G
1 paper
NM_014846.4
p.P208L
c.623C>T
1 paper
NM_014846.4
p.A201V
c.602C>T
8 papers
NM_014846.4
p.P216L
c.647C>T
1 paper
NM_014846.4
p.N218_E219Fs
c.654_655delinsGFs
2 papers
NM_014846.4
p.R191Q
c.572G>A
9 papers
NM_014846.4
p.I226T
c.677T>C
1 paper
NM_014846.4
p.R228Q
c.683G>A
1 paper
NM_014846.4
p.D185N
c.553G>A
4 papers
NM_014846.4
p.L229V
c.685C>G
1 paper
NM_014846.4
p.L229R
c.686T>G
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