Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.P669R

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.P669R
c.2006C>G
Surrounding Variants
1 paper
NM_014846.4
p.R670*
c.2008C>T
1 paper
NM_014846.4
p.R670Q
c.2009G>A
1 paper
NM_014846.4
p.Y664H
c.1990T>C
1 paper
NM_014846.4
p.R662S
c.1986G>C
1 paper
NM_014846.4
p.R655L
c.1964G>T
1 paper
NM_014846.4
p.R655C
c.1963C>T
2 papers
NM_014846.4
p.V652V
c.1956G>T
2 papers
NM_014846.4
p.E651K
c.1951G>A
5 papers
NM_014846.4
p.D648N
c.1942G>A
4 papers
NM_014846.4
p.I642V
c.1924A>G
1 paper
NM_014846.4
p.F635L
c.1903T>C
1 paper
NM_014846.4
p.P631T
c.1891C>A
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