Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1436delFs

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
25 papers
NM_025137.4
p.Q1436delFs
c.4307_4308delTT
Surrounding Variants
3 papers
NM_025137.4
p.Q1436fs
c.4306_4307fs
2 papers
NM_025137.4
p.Q1436delFs
c.4306_4307delTG
5 papers
NM_025137.4
p.Q1436*
c.4306C>T
10 papers
NM_025137.4
p.Q1436fs
c.4306_4307fs
1 paper
NM_025137.4
p.K1435*
c.4303A>T
1 paper
NM_025137.4
p.K1435_L1441del7
c.4303_4322del21
1 paper
NM_025137.4
p.E1430insFs
c.4290dupA
1 paper
NM_025137.4
p.E1430*
c.4288G>T
1 paper
NM_025137.4
p.Q1447*
c.4339C>T
2 papers
NM_025137.4
p.C1448Y
c.4343G>A
2 papers
NM_025137.4
p.N1425S
c.4274A>G
1 paper
NM_025137.4
p.E1451*
c.4351G>T
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