Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R24R

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
1 paper
NM_025137.4
p.R24R
c.72G>C
Surrounding Variants
1 paper
NM_025137.4
p.R24Q
c.71G>A
1 paper
NM_025137.4
p.G23G
c.69G>C
1 paper
NM_025137.4
p.A20_M22del3
c.58_65del9
1 paper
NM_025137.4
p.L26P
c.77T>C
1 paper
NM_025137.4
p.G23W
c.67G>T
1 paper
NM_025137.4
p.G23R
c.67G>C
1 paper
NM_025137.4
p.G23R
c.67G>A
1 paper
NM_025137.4
p.M22I
c.66G>T
1 paper
NM_025137.4
p.M22I
c.66G>C
1 paper
NM_025137.4
p.M22I
c.66G>A
2 papers
NM_025137.4
p.M22T
c.65T>C
3 papers
NM_025137.4
p.M22V
c.64A>G
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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."