Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.P280L

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
1 paper
NM_015915.5
p.P280L
c.839C>T
Surrounding Variants
1 paper
NM_015915.5
p.F282V
c.844T>G
1 paper
NM_015915.5
p.T278I
c.833C>T
1 paper
NM_015915.5
p.T278A
c.832A>G
2 papers
NM_015915.5
p.A277P
c.829G>C
1 paper
NM_015915.5
p.K285Q
c.853A>C
1 paper
NM_015915.5
p.L286V
c.856T>G
1 paper
NM_015915.5
p.P272H
c.815C>A
1 paper
NM_015915.5
p.P272L
c.815C>T
1 paper
NM_015915.5
p.E288Splc
c.862+6T>C
1 paper
NM_015915.5
p.F267L
c.801T>A
1 paper
NM_015915.5
p.F267L
c.801T>G
1 paper
NM_015915.5
p.F267L
c.799T>C
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