Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.A557T

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
5 papers
NM_014846.4
p.A557T
c.1669G>A
Surrounding Variants
1 paper
NM_014846.4
p.V544_M548delFs
c.1630_1643del14
1 paper
NM_014846.4
p.L545_I546insFs
c.1635_1636insA
1 paper
NM_014846.4
p.R528*
c.1582C>T
2 papers
NM_014846.4
p.A525T
c.1573G>A
1 paper
NM_014846.4
p.Q522*
c.1564C>T
1 paper
NM_014846.4
p.V520insFs
c.1559_1560insA
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
1 paper
NM_014846.4
p.E570K
c.1708G>A
4 papers
NM_014846.4
p.N517S
c.1550A>G
1 paper
NM_014846.4
p.I572delFs
c.1714_1715delAT
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