Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1825*

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.Q1825*
c.5473C>T
Surrounding Variants
1 paper
NM_025137.4
p.Q1825_I1826ins5
c.5473_5477ins15
7 papers
NM_025137.4
p.R1824*
c.5470C>T
2 papers
NM_025137.4
p.S1827*
c.5480C>G
2 papers
NM_025137.4
p.S1827*
c.5480C>A
8 papers
NM_025137.4
p.E1819delFs
c.5456_5457delCT
2 papers
NM_025137.4
p.T1818_E1819del2
c.5452_5456del6
1 paper
NM_025137.4
p.E1817_E1819del0
c.5449_5457del9
2 papers
NM_025137.4
p.G1830D
c.5489G>A
2 papers
NM_025137.4
p.T1818insFs
c.5454dupA
3 papers
NM_025137.4
p.G1830delFs
c.5490delA
6 papers
NM_025137.4
p.E1819fs
c.5455_5456fs
1 paper
NM_025137.4
p.E1831fs
c.5491_5492fs
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