Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S1827*

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
2 papers
NM_025137.4
p.S1827*
c.5480C>A
Surrounding Variants
2 papers
NM_025137.4
p.S1827*
c.5480C>G
1 paper
NM_025137.4
p.Q1825*
c.5473C>T
1 paper
NM_025137.4
p.Q1825_I1826ins5
c.5473_5477ins15
2 papers
NM_025137.4
p.G1830D
c.5489G>A
7 papers
NM_025137.4
p.R1824*
c.5470C>T
3 papers
NM_025137.4
p.G1830delFs
c.5490delA
1 paper
NM_025137.4
p.E1831fs
c.5491_5492fs
1 paper
NM_025137.4
p.E1831G
c.5492A>G
2 papers
NM_025137.4
p.S1833A
c.5497T>G
1 paper
NM_025137.4
p.S1833P
c.5497T>C
1 paper
NM_025137.4
p.F1834_D1835insT
c.5500_5504ins3
8 papers
NM_025137.4
p.E1819delFs
c.5456_5457delCT
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."