Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.H258R

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
18 papers
NM_015915.5
p.H258R
c.773A>G
Surrounding Variants
1 paper
NM_015915.5
p.H258D
c.772C>G
14 papers
NM_015915.5
p.S259Y
c.776C>A
6 papers
NM_015915.5
p.S259F
c.776C>T
1 paper
NM_015915.5
p.S259S
c.777C>A
1 paper
NM_015915.5
p.H256Q
c.768C>G
1 paper
NM_015915.5
p.H256N
c.766C>A
2 papers
NM_015915.5
p.F261L
c.781T>C
2 papers
NM_015915.5
p.F261L
c.783C>A
2 papers
NM_015915.5
p.F261L
c.783C>G
1 paper
NM_015915.5
p.R254*
c.760A>T
1 paper
NM_015915.5
p.N263S
c.788A>G
16 papers
NM_015915.5
p.V253I
c.757G>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."