Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.L476P

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
1 paper
NM_015915.5
p.L476P
c.1427T>C
Surrounding Variants
1 paper
NM_015915.5
p.S475G
c.1423A>G
3 papers
NM_015915.5
p.I472I
c.1416C>T
1 paper
NM_015915.5
p.I480R
c.1439T>G
5 papers
NM_015915.5
p.G482V
c.1445G>T
1 paper
NM_015915.5
p.L470V
c.1408T>G
1 paper
NM_015915.5
p.T484_C489delFs
c.1450_1466del17
4 papers
NM_015915.5
p.G469A
c.1406G>C
1 paper
NM_015915.5
p.T484T
c.1452C>T
3 papers
NM_015915.5
p.F467L
c.1401C>G
1 paper
NM_015915.5
p.I486M
c.1458C>G
4 papers
NM_015915.5
p.L488insFs
c.1462_1463insTG
1 paper
NM_015915.5
p.V464V
c.1392G>A
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