Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.I129V

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.I129V
c.385A>G
Surrounding Variants
1 paper
NM_025137.4
p.T128insFs
c.382_383insAG
7 papers
NM_025137.4
p.T128S
c.382A>T
1 paper
NM_025137.4
p.T128A
c.382A>G
1 paper
NM_025137.4
p.A127A
c.381A>T
1 paper
NM_025137.4
p.A127T
c.379G>A
1 paper
NM_025137.4
p.Y131_S132insFs
c.393_394insG
1 paper
NM_025137.4
p.Y131insFs
c.392_393insA
1 paper
NM_025137.4
p.Y131delFs
c.392delT
1 paper
NM_025137.4
p.D126delFs
c.376delC
1 paper
NM_025137.4
p.D126H
c.376G>C
2 papers
NM_025137.4
p.D126N
c.376G>A
3 papers
NM_025137.4
p.S132G
c.394A>G
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