Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S56fs

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
2 papers
NM_025137.4
p.S56fs
c.166_167fs
Surrounding Variants
1 paper
NM_025137.4
p.G55delFs
c.165delC
1 paper
NM_025137.4
p.G55E
c.164G>A
2 papers
NM_025137.4
p.L57delFs
c.169delG
1 paper
NM_025137.4
p.L57L
c.171G>A
1 paper
NM_025137.4
p.A53V
c.158C>T
1 paper
NM_025137.4
p.A53S
c.157G>T
2 papers
NM_025137.4
p.A53T
c.157G>A
1 paper
NM_025137.4
p.E52D
c.156G>C
4 papers
NM_025137.4
p.A59V
c.176C>T
2 papers
NM_025137.4
p.E52G
c.155A>G
1 paper
NM_025137.4
p.G61R
c.181G>C
1 paper
NM_025137.4
p.Q50H
c.150G>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."