Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R93S

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.R93S
c.277C>A
Surrounding Variants
2 papers
NM_025137.4
p.R93fs
c.277_278fs
1 paper
NM_025137.4
p.R93H
c.278G>A
1 paper
NM_025137.4
p.R93delFs
c.278delC
1 paper
NM_025137.4
p.N94K
c.282C>G
1 paper
NM_025137.4
p.N94K
c.282C>A
1 paper
NM_025137.4
p.D91V
c.272A>T
2 papers
NM_025137.4
p.D91A
c.272A>C
1 paper
NM_025137.4
p.D91N
c.271G>A
1 paper
NM_025137.4
p.S95C
c.283A>T
1 paper
NM_025137.4
p.E90D
c.270G>T
1 paper
NM_025137.4
p.E90D
c.270G>C
3 papers
NM_025137.4
p.E90*
c.268G>T
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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."