Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.V483I

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.V483I
c.1447G>A
Surrounding Variants
1 paper
NM_025137.4
p.V483A
c.1448T>C
1 paper
NM_025137.4
p.Q479_C481delFs
c.1435_1441del7
3 papers
NM_025137.4
p.L480delFs
c.1440delC
2 papers
NM_025137.4
p.Q479*
c.1435C>T
1 paper
NM_025137.4
p.Q479E
c.1435C>G
2 papers
NM_025137.4
p.Q478*
c.1432C>T
1 paper
NM_025137.4
p.G476delFs
c.1426_1427delCC
1 paper
NM_025137.4
p.G476fs
c.1426_1427fs
1 paper
NM_025137.4
p.S474_S475insFs
c.1422_1423ins25
1 paper
NM_025137.4
p.S474N
c.1421G>A
1 paper
NM_025137.4
p.D473delFs
c.1418_1419delGT
1 paper
NM_025137.4
p.S474insFs
c.1420_1421insGT
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