Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q421*

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.Q421*
c.1261C>T
Surrounding Variants
1 paper
NM_025137.4
p.E422G
c.1265A>G
1 paper
NM_025137.4
p.E423*
c.1267G>T
1 paper
NM_025137.4
p.H417_I418del2
c.1249_1253del6
1 paper
NM_025137.4
p.I418N
c.1253T>A
1 paper
NM_025137.4
p.P424T
c.1270C>A
2 papers
NM_025137.4
p.H417Y
c.1249C>T
2 papers
NM_025137.4
p.M416I
c.1248G>T
2 papers
NM_025137.4
p.M416I
c.1248G>C
2 papers
NM_025137.4
p.M416I
c.1248G>A
4 papers
NM_025137.4
p.I425_E426insFs
c.1275_1276insA
1 paper
NM_025137.4
p.I425delFs
c.1275delT
3 papers
NM_025137.4
p.E426fs
c.1276_1277fs
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