Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.A1467insFs

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
2 papers
NM_025137.4
p.A1467insFs
c.4400_4401insTA
Surrounding Variants
1 paper
NM_025137.4
p.A1467insFs
c.4400_4401ins2
1 paper
NM_025137.4
p.I1469V
c.4405A>G
1 paper
NM_025137.4
p.I1469insFs
c.4406_4407ins2
1 paper
NM_025137.4
p.I1469insFs
c.4406_4407insTA
1 paper
NM_025137.4
p.K1464fs
c.4390_4391fs
1 paper
NM_025137.4
p.A1462_V1463insTG
c.4384_4388ins6
3 papers
NM_025137.4
p.S1471_V1472del2
c.4411_4415del6
1 paper
NM_025137.4
p.C1476insFs
c.4426_4427insAT
2 papers
NM_025137.4
p.C1476fs
c.4426_4427fs
1 paper
NM_025137.4
p.S1475_C1476insFs
c.4425_4426dupAT
2 papers
NM_025137.4
p.K1464_C1476delFs
c.4390_4427del38
4 papers
NM_025137.4
p.Q1478H
c.4434G>T
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