Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.A492insFs

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.A492insFs
c.1474_1475insG
Surrounding Variants
1 paper
NM_015915.5
p.W491*
c.1472G>A
1 paper
NM_015915.5
p.W491*
c.1473G>A
1 paper
NM_015915.5
p.T490fs
c.1468_1469fs
1 paper
NM_015915.5
p.C489_T490insFs
c.1467_1468insTG
4 papers
NM_015915.5
p.L488insFs
c.1462_1463insTG
36 papers
NM_015915.5
p.R495W
c.1483C>T
1 paper
NM_015915.5
p.I486M
c.1458C>G
1 paper
NM_015915.5
p.T484T
c.1452C>T
1 paper
NM_015915.5
p.T484_C489delFs
c.1450_1466del17
5 papers
NM_015915.5
p.G482V
c.1445G>T
2 papers
NM_015915.5
p.E502delFs
c.1505_1506delAG
3 papers
NM_015915.5
p.E502insFs
c.1504_1505insG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."