Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.L2004V

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
3 papers
NM_025137.4
p.L2004V
c.6010T>G
Surrounding Variants
3 papers
NM_025137.4
p.E2003D
c.6009G>T
3 papers
NM_025137.4
p.E2003D
c.6009G>C
1 paper
NM_025137.4
p.A2013V
c.6038C>T
4 papers
NM_025137.4
p.D2015N
c.6043G>A
1 paper
NM_025137.4
p.M2019T
c.6056T>C
2 papers
NM_025137.4
p.R2021W
c.6061C>T
1 paper
NM_025137.4
p.R2021P
c.6062G>C
2 papers
NM_025137.4
p.R2021Q
c.6062G>A
2 papers
NM_025137.4
p.Q2028*
c.6082C>T
1 paper
NM_025137.4
p.P2029A
c.6085C>G
13 papers
NM_025137.4
p.R2031*
c.6091C>T
1 paper
NM_025137.4
p.C2032R
c.6094T>C
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