Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.K481I

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
2 papers
NM_014846.4
p.K481I
c.1442A>T
Surrounding Variants
2 papers
NM_014846.4
p.K481R
c.1442A>G
1 paper
NM_014846.4
p.I479_K481delFs
c.1435_1441del7
1 paper
NM_014846.4
p.S480*
c.1439C>G
1 paper
NM_014846.4
p.S480*
c.1439C>A
1 paper
NM_014846.4
p.E478*
c.1432G>T
2 papers
NM_014846.4
p.N487T
c.1460A>C
1 paper
NM_014846.4
p.N487delFs
c.1459delT
1 paper
NM_014846.4
p.D490N
c.1468G>A
26 papers
NM_014846.4
p.N471D
c.1411A>G
1 paper
NM_014846.4
p.T492P
c.1474A>C
1 paper
NM_014846.4
p.G495_R496insFs
c.1485_1486insGG
4 papers
NM_014846.4
p.K497K
c.1491A>G
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