Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Y232F

SPG11

700 papers

RefSeq Summary

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcrip...

Pfam Domains

Spatacsin_Caa 2047–2339UCSCSpatacsin C-terminus

Gene Aliases

HGNC Name

SPG11 vesicle trafficking associated, spatacsin

HGNC Previous Symbols

KIAA1840; ALS5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_025137.4
p.Y232F
c.695A>T
Surrounding Variants
1 paper
NM_025137.4
p.V228_Y232delins
c.683_694delinsCTC
1 paper
NM_025137.4
p.D226_V228del0
c.676_684del9
1 paper
NM_025137.4
p.G230C
c.688G>T
2 papers
NM_025137.4
p.H235fs
c.703_704fs
1 paper
NM_025137.4
p.H235Y
c.703C>T
3 papers
NM_025137.4
p.H235P
c.704A>C
2 papers
NM_025137.4
p.H235fs
c.703_704fs
15 papers
NM_025137.4
p.H235delFs
c.704_705delAT
1 paper
NM_025137.4
p.D237G
c.710A>G
1 paper
NM_025137.4
p.D226Y
c.676G>T
1 paper
NM_025137.4
p.D226N
c.676G>A
1 paper
NM_025137.4
p.A239_L240insFs
c.717_718insAC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."