Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.T49R

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.T49R
c.146C>G
Surrounding Variants
1 paper
NM_025137.4
p.T49S
c.145A>T
1 paper
NM_025137.4
p.T49A
c.145A>G
1 paper
NM_025137.4
p.Q50*
c.148C>T
1 paper
NM_025137.4
p.Q50H
c.150G>T
1 paper
NM_025137.4
p.Q50H
c.150G>C
1 paper
NM_025137.4
p.L47L
c.141G>A
2 papers
NM_025137.4
p.L47V
c.139C>G
2 papers
NM_025137.4
p.E52G
c.155A>G
1 paper
NM_025137.4
p.Q46R
c.137A>G
1 paper
NM_025137.4
p.E52D
c.156G>C
1 paper
NM_025137.4
p.A53S
c.157G>T
2 papers
NM_025137.4
p.A53T
c.157G>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."