Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.K140E

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.K140E
c.418A>G
Surrounding Variants
1 paper
NM_025137.4
p.K140Q
c.418A>C
1 paper
NM_025137.4
p.Q139_K140delFs
c.417_418delTT
1 paper
NM_025137.4
p.L141H
c.422T>A
1 paper
NM_025137.4
p.D143Y
c.427G>T
2 papers
NM_025137.4
p.A137T
c.409G>A
5 papers
NM_025137.4
p.E136_D143del0
c.408_428del21
1 paper
NM_025137.4
p.E136G
c.407A>G
1 paper
NM_025137.4
p.R135T
c.404G>C
1 paper
NM_025137.4
p.R135K
c.404G>A
2 papers
NM_025137.4
p.Q145fs
c.433_434fs
3 papers
NM_025137.4
p.Q145insFs
c.434_435insC
1 paper
NM_025137.4
p.S134insFs
c.401_402insTT
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