Varaico: Literature-Extracted Genetic Variants

Gene:ATL1

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
1–12 of 421 variants
61 papers
NM_015915.5
p.R239C
c.715C>T
36 papers
NM_015915.5
p.R495W
c.1483C>T
28 papers
NM_015915.5
p.R217Q
c.650G>A
18 papers
NM_015915.5
p.H258R
c.773A>G
18 papers
NM_015915.5
p.R415W
c.1243C>T
16 papers
NM_015915.5
p.V253I
c.757G>A
14 papers
NM_015915.5
p.S259Y
c.776C>A
14 papers
NM_015915.5
p.M408T
c.1223T>C
14 papers
NM_015915.5
p.R416C
c.1246C>T
13 papers
NM_015915.5
p.P342S
c.1024C>T
13 papers
NM_015915.5
p.S398Y
c.1193C>A
13 papers
NM_015915.5
p.M408V
c.1222A>G
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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."