Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1875*

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
21 papers
NM_025137.4
p.Q1875*
c.5623C>T
Surrounding Variants
1 paper
NM_025137.4
p.S1877L
c.5630C>T
3 papers
NM_025137.4
p.L1870*
c.5609T>A
1 paper
NM_025137.4
p.I1882S
c.5645T>G
1 paper
NM_025137.4
p.I1882delFs
c.5644delT
1 paper
NM_025137.4
p.I1882fs
c.5644_5645fs
1 paper
NM_025137.4
p.E1867K
c.5599G>A
1 paper
NM_025137.4
p.R1884C
c.5650C>T
1 paper
NM_025137.4
p.P1861L
c.5582C>T
1 paper
NM_025137.4
p.K1853_Y1854delFs
c.5557_5561del5
1 paper
NM_025137.4
p.K1853E
c.5557A>G
2 papers
NM_025137.4
p.R1896_V1897delFs
c.5687_5691del5
1 paper
NM_025137.4
p.R1899W
c.5695C>T
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."