Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.S414R

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
4 papers
NM_015915.5
p.S414R
c.1240A>C
Surrounding Variants
5 papers
NM_015915.5
p.F413L
c.1239T>A
2 papers
NM_015915.5
p.F413F
c.1239T>C
6 papers
NM_015915.5
p.F413L
c.1239T>G
4 papers
NM_015915.5
p.S414R
c.1242C>A
6 papers
NM_015915.5
p.S414R
c.1242C>G
18 papers
NM_015915.5
p.R415W
c.1243C>T
7 papers
NM_015915.5
p.F413L
c.1237T>C
5 papers
NM_015915.5
p.F413V
c.1237T>G
9 papers
NM_015915.5
p.R415Q
c.1244G>A
14 papers
NM_015915.5
p.R416C
c.1246C>T
6 papers
NM_015915.5
p.R416H
c.1247G>A
3 papers
NM_015915.5
p.R416_Y417ins1
c.1248_1249insAAT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."