Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S67C

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.S67C
c.200C>G
Surrounding Variants
1 paper
NM_025137.4
p.S67fs
c.199_200fs
1 paper
NM_025137.4
p.L68W
c.203T>G
1 paper
NM_025137.4
p.L68S
c.203T>C
1 paper
NM_025137.4
p.L68insFs
c.202_203dupTT
1 paper
NM_025137.4
p.S67_L68delFs
c.200_203del4
1 paper
NM_025137.4
p.T69M
c.206C>T
1 paper
NM_025137.4
p.T69K
c.206C>A
1 paper
NM_025137.4
p.P70T
c.208C>A
1 paper
NM_025137.4
p.P70L
c.209C>T
1 paper
NM_025137.4
p.Q64L
c.191A>T
2 papers
NM_025137.4
p.Q64insFs
c.190dupC
1 paper
NM_025137.4
p.Q64E
c.190C>G
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