Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.E1430insFs

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.E1430insFs
c.4290dupA
Surrounding Variants
1 paper
NM_025137.4
p.E1430*
c.4288G>T
1 paper
NM_025137.4
p.K1435*
c.4303A>T
5 papers
NM_025137.4
p.Q1436*
c.4306C>T
10 papers
NM_025137.4
p.Q1436fs
c.4306_4307fs
2 papers
NM_025137.4
p.N1425S
c.4274A>G
3 papers
NM_025137.4
p.Q1436fs
c.4306_4307fs
2 papers
NM_025137.4
p.Q1436delFs
c.4306_4307delTG
25 papers
NM_025137.4
p.Q1436delFs
c.4307_4308delTT
2 papers
NM_025137.4
p.Q1422*
c.4264C>T
2 papers
NM_025137.4
p.D1421N
c.4261G>A
1 paper
NM_025137.4
p.S1420S
c.4260C>T
1 paper
NM_025137.4
p.M1418_D1419del2
c.4252_4256del6
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