Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.F467L

ATL1

379 papers

RefSeq Summary

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated ...

Pfam Domains

GBPaa 43–314UCSCGuanylate-binding protein, N-terminal domain

Gene Aliases

HGNC Name

atlastin GTPase 1

HGNC Previous Symbols

SPG3; SPG3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015915.5
p.F467L
c.1401C>G
Surrounding Variants
4 papers
NM_015915.5
p.G469A
c.1406G>C
1 paper
NM_015915.5
p.L470V
c.1408T>G
1 paper
NM_015915.5
p.V464V
c.1392G>A
3 papers
NM_015915.5
p.I472I
c.1416C>T
2 papers
NM_015915.5
p.I461T
c.1382T>C
1 paper
NM_015915.5
p.S475G
c.1423A>G
8 papers
NM_015915.5
p.Y459C
c.1376A>G
1 paper
NM_015915.5
p.L476P
c.1427T>C
1 paper
NM_015915.5
p.T458P
c.1372A>C
1 paper
NM_015915.5
p.F456L
c.1368T>A
1 paper
NM_015915.5
p.F456L
c.1368T>G
1 paper
NM_015915.5
p.F456L
c.1366T>C
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