Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.F413L

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
7 papers
NM_015915.5
p.F413L
c.1237T>C
Surrounding Variants
5 papers
NM_015915.5
p.F413V
c.1237T>G
5 papers
NM_015915.5
p.F413L
c.1239T>A
2 papers
NM_015915.5
p.F413F
c.1239T>C
6 papers
NM_015915.5
p.F413L
c.1239T>G
4 papers
NM_015915.5
p.S414R
c.1240A>C
1 paper
NM_015915.5
p.E411A
c.1232A>C
4 papers
NM_015915.5
p.S414R
c.1242C>A
6 papers
NM_015915.5
p.S414R
c.1242C>G
18 papers
NM_015915.5
p.R415W
c.1243C>T
9 papers
NM_015915.5
p.R415Q
c.1244G>A
2 papers
NM_015915.5
p.G410E
c.1229G>A
14 papers
NM_015915.5
p.R416C
c.1246C>T
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