Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.S211R

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.S211R
c.631A>C
Surrounding Variants
1 paper
NM_015915.5
p.S211R
c.633T>A
1 paper
NM_015915.5
p.S211R
c.633T>G
1 paper
NM_015915.5
p.L215I
c.643C>A
1 paper
NM_015915.5
p.V216I
c.646G>A
5 papers
NM_015915.5
p.R217*
c.649C>T
28 papers
NM_015915.5
p.R217Q
c.650G>A
1 paper
NM_015915.5
p.W219*
c.656G>A
1 paper
NM_015915.5
p.W219*
c.657G>A
1 paper
NM_015915.5
p.F221Y
c.662T>A
1 paper
NM_015915.5
p.A229G
c.686C>G
2 papers
NM_015915.5
p.D230N
c.688G>A
1 paper
NM_015915.5
p.K234R
c.701A>G
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