Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R135T

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.R135T
c.404G>C
Surrounding Variants
1 paper
NM_025137.4
p.R135K
c.404G>A
1 paper
NM_025137.4
p.S134insFs
c.401_402insTT
1 paper
NM_025137.4
p.S134T
c.401G>C
1 paper
NM_025137.4
p.S134N
c.401G>A
1 paper
NM_025137.4
p.E136G
c.407A>G
6 papers
NM_025137.4
p.C133delFs
c.398delC
2 papers
NM_025137.4
p.A137T
c.409G>A
3 papers
NM_025137.4
p.C133fs
c.397_398fs
2 papers
NM_025137.4
p.S132N
c.395G>A
3 papers
NM_025137.4
p.S132G
c.394A>G
1 paper
NM_025137.4
p.Y131_S132insFs
c.393_394insG
1 paper
NM_025137.4
p.Y131insFs
c.392_393insA
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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."