Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R2059G

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.R2059G
c.6175C>G
Surrounding Variants
2 papers
NM_025137.4
p.R2059W
c.6175C>T
1 paper
NM_025137.4
p.V2057fs
c.6169_6170fs
2 papers
NM_025137.4
p.V2057fs
c.6169_6170fs
2 papers
NM_025137.4
p.E2056V
c.6167A>T
1 paper
NM_025137.4
p.E2056K
c.6166G>A
1 paper
NM_025137.4
p.T2063S
c.6187A>T
1 paper
NM_025137.4
p.T2063S
c.6188C>G
1 paper
NM_025137.4
p.V2053A
c.6158T>C
1 paper
NM_025137.4
p.S2065P
c.6193T>C
13 papers
NM_025137.4
p.V2053M
c.6157G>A
4 papers
NM_025137.4
p.S2065*
c.6194C>G
2 papers
NM_025137.4
p.S2065*
c.6194C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."