Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.I507insFs

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
2 papers
NM_015915.5
p.I507insFs
c.1519dupA
Surrounding Variants
1 paper
NM_015915.5
p.V506E
c.1517T>A
1 paper
NM_015915.5
p.V506_I507insFs
c.1518_1519insTC
1 paper
NM_015915.5
p.I507fs
c.1519_1520fs
1 paper
NM_015915.5
p.I507delFs
c.1520delT
4 papers
NM_015915.5
p.I507insFs
c.1520_1521insA
1 paper
NM_015915.5
p.G504E
c.1511G>A
1 paper
NM_015915.5
p.G504fs
c.1510_1511fs
1 paper
NM_015915.5
p.L503delFs
c.1509delG
1 paper
NM_015915.5
p.E502insFs
c.1505_1506insG
1 paper
NM_015915.5
p.E502fs
c.1504_1505fs
3 papers
NM_015915.5
p.E502insFs
c.1504_1505insG
2 papers
NM_015915.5
p.E502delFs
c.1505_1506delAG
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