Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.A53S

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.A53S
c.157G>T
Surrounding Variants
2 papers
NM_025137.4
p.A53T
c.157G>A
1 paper
NM_025137.4
p.E52D
c.156G>C
1 paper
NM_025137.4
p.A53V
c.158C>T
2 papers
NM_025137.4
p.E52G
c.155A>G
1 paper
NM_025137.4
p.Q50H
c.150G>T
1 paper
NM_025137.4
p.Q50H
c.150G>C
1 paper
NM_025137.4
p.G55E
c.164G>A
1 paper
NM_025137.4
p.Q50*
c.148C>T
2 papers
NM_025137.4
p.S56fs
c.166_167fs
1 paper
NM_025137.4
p.G55delFs
c.165delC
1 paper
NM_025137.4
p.T49R
c.146C>G
1 paper
NM_025137.4
p.T49S
c.145A>T
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