Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S43fs

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.S43fs
c.127_128fs
Surrounding Variants
2 papers
NM_025137.4
p.R44fs
c.130_131fs
3 papers
NM_025137.4
p.R44W
c.130C>T
5 papers
NM_025137.4
p.S43delFs
c.128delG
2 papers
NM_025137.4
p.G42D
c.125G>A
1 paper
NM_025137.4
p.G42S
c.124G>A
1 paper
NM_025137.4
p.Q46R
c.137A>G
2 papers
NM_025137.4
p.L47V
c.139C>G
16 papers
NM_025137.4
p.Q40*
c.118C>T
1 paper
NM_025137.4
p.L47L
c.141G>A
1 paper
NM_025137.4
p.G39E
c.116G>A
1 paper
NM_025137.4
p.G39R
c.115G>A
1 paper
NM_025137.4
p.M38I
c.114G>A
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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."