Varaico: Literature-Extracted Genetic Variants

Gene:SPG11

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
1–12 of 1669 variants
54 papers
NM_025137.4
p.M245delFs
c.733_734delAT
27 papers
NM_025137.4
p.K1025insFs
c.3075dupA
27 papers
NM_025137.4
p.R2034*
c.6100C>T
25 papers
NM_025137.4
p.R651*
c.1951C>T
25 papers
NM_025137.4
p.Q1436delFs
c.4307_4308delTT
21 papers
NM_025137.4
p.Q1875*
c.5623C>T
20 papers
NM_025137.4
p.W89*
c.267G>A
20 papers
NM_025137.4
p.K401delFs
c.1203delT
20 papers
NM_025137.4
p.L733_K734del2
c.2197_2201del6
19 papers
NM_025137.4
p.M245fs
c.733_734fs
18 papers
NM_025137.4
p.W89*
c.266G>A
18 papers
NM_025137.4
p.L721insFs
c.2163dupT
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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."