Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.E1451*

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.E1451*
c.4351G>T
Surrounding Variants
2 papers
NM_025137.4
p.C1448Y
c.4343G>A
1 paper
NM_025137.4
p.Q1447*
c.4339C>T
5 papers
NM_025137.4
p.W1455C
c.4365G>T
5 papers
NM_025137.4
p.W1455C
c.4365G>C
1 paper
NM_025137.4
p.K1435_L1441del7
c.4303_4322del21
1 paper
NM_025137.4
p.A1462_V1463insTG
c.4384_4388ins6
1 paper
NM_025137.4
p.K1464fs
c.4390_4391fs
25 papers
NM_025137.4
p.Q1436delFs
c.4307_4308delTT
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
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