Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S383G

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.S383G
c.1147A>G
Surrounding Variants
1 paper
NM_025137.4
p.Q382_S383insAG
c.1144_1148ins6
1 paper
NM_025137.4
p.V381M
c.1141G>A
1 paper
NM_025137.4
p.T379R
c.1136C>G
1 paper
NM_025137.4
p.S378R
c.1134T>G
1 paper
NM_025137.4
p.S378R
c.1134T>A
1 paper
NM_025137.4
p.H377_S378delFs
c.1129_1133del5
1 paper
NM_025137.4
p.P388S
c.1162C>T
1 paper
NM_025137.4
p.P388T
c.1162C>A
1 paper
NM_025137.4
p.S378C
c.1132A>T
1 paper
NM_025137.4
p.S378G
c.1132A>G
1 paper
NM_025137.4
p.S378R
c.1132A>C
1 paper
NM_025137.4
p.N376_H377del1
c.1128_1130delTGG
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