Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.M347I

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.M347I
c.1041G>C
Surrounding Variants
2 papers
NM_015915.5
p.M347I
c.1041G>A
2 papers
NM_015915.5
p.M347I
c.1041G>T
7 papers
NM_015915.5
p.M347T
c.1040T>C
2 papers
NM_015915.5
p.M347L
c.1039A>C
2 papers
NM_015915.5
p.M347L
c.1039A>T
1 paper
NM_015915.5
p.S346C
c.1037C>G
3 papers
NM_015915.5
p.S346A
c.1036T>G
1 paper
NM_015915.5
p.K345N
c.1035A>C
3 papers
NM_015915.5
p.P344S
c.1030C>T
7 papers
NM_015915.5
p.P342Q
c.1025C>A
2 papers
NM_015915.5
p.P342R
c.1025C>G
13 papers
NM_015915.5
p.P342S
c.1024C>T
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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."