Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.T1048I

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.T1048I
c.3143C>T
Surrounding Variants
3 papers
NM_025137.4
p.T1048insFs
c.3143_3144dupCA
1 paper
NM_025137.4
p.N1046S
c.3137A>G
1 paper
NM_025137.4
p.S1045N
c.3134G>A
1 paper
NM_025137.4
p.A1044V
c.3131C>T
4 papers
NM_025137.4
p.R1041_Q1042del1
c.3122_3124delGTC
2 papers
NM_025137.4
p.R1041Q
c.3122G>A
8 papers
NM_025137.4
p.R1041*
c.3121C>T
1 paper
NM_025137.4
p.L1027_L1037insFs
c.3080_3111dup32
3 papers
NM_025137.4
p.P1032L
c.3095C>T
1 paper
NM_025137.4
p.A1030G
c.3089C>G
3 papers
NM_025137.4
p.E1026fs
c.3076_3077fs
2 papers
NM_025137.4
p.E1026insFs
c.3077dupA
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