Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.H393P

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.H393P
c.1178A>C
Surrounding Variants
1 paper
NM_025137.4
p.M392I
c.1176G>T
1 paper
NM_025137.4
p.M392I
c.1176G>C
3 papers
NM_025137.4
p.M392I
c.1176G>A
1 paper
NM_025137.4
p.M392_H393insA
c.1174_1178ins3
2 papers
NM_025137.4
p.Y396C
c.1187A>G
2 papers
NM_025137.4
p.D390G
c.1169A>G
1 paper
NM_025137.4
p.D390N
c.1168G>A
1 paper
NM_025137.4
p.P388S
c.1162C>T
1 paper
NM_025137.4
p.P388T
c.1162C>A
1 paper
NM_025137.4
p.Q400*
c.1198C>T
1 paper
NM_025137.4
p.K401E
c.1201A>G
1 paper
NM_025137.4
p.K401_D402insTT
c.1201_1205ins6
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