Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.M408T

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
14 papers
NM_015915.5
p.M408T
c.1223T>C
Surrounding Variants
13 papers
NM_015915.5
p.M408V
c.1222A>G
2 papers
NM_015915.5
p.G409S
c.1225G>A
2 papers
NM_015915.5
p.K407N
c.1221G>C
2 papers
NM_015915.5
p.K407N
c.1221G>T
1 paper
NM_015915.5
p.G409C
c.1225G>T
5 papers
NM_015915.5
p.K407R
c.1220A>G
2 papers
NM_015915.5
p.K407M
c.1220A>T
8 papers
NM_015915.5
p.G409D
c.1226G>A
1 paper
NM_015915.5
p.G409V
c.1226G>T
4 papers
NM_015915.5
p.G410R
c.1228G>A
4 papers
NM_015915.5
p.G410R
c.1228G>C
2 papers
NM_015915.5
p.G410E
c.1229G>A
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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."