Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.K121I

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.K121I
c.362A>T
Surrounding Variants
2 papers
NM_025137.4
p.K121Q
c.361A>C
3 papers
NM_025137.4
p.L120delFs
c.359delA
1 paper
NM_025137.4
p.L120S
c.359T>C
2 papers
NM_025137.4
p.L120*
c.359T>A
1 paper
NM_025137.4
p.D122G
c.365A>G
1 paper
NM_025137.4
p.G123A
c.368G>C
1 paper
NM_025137.4
p.R124G
c.370A>G
1 paper
NM_025137.4
p.I115_F118insFs
c.343_352dup10
1 paper
NM_025137.4
p.R124delFs
c.372delT
2 papers
NM_025137.4
p.E117G
c.350A>G
1 paper
NM_025137.4
p.D122_C125delFs
c.364_373del10
5 papers
NM_025137.4
p.E117*
c.349G>T
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