Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.L250Q

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.L250Q
c.749T>A
Surrounding Variants
7 papers
NM_015915.5
p.L250P
c.749T>C
1 paper
NM_015915.5
p.L250V
c.748C>G
4 papers
NM_015915.5
p.Q251K
c.751C>A
2 papers
NM_015915.5
p.Q251R
c.752A>G
2 papers
NM_015915.5
p.E249_L250del1
c.746_748delAAC
5 papers
NM_015915.5
p.N252K
c.756C>A
5 papers
NM_015915.5
p.N252K
c.756C>G
2 papers
NM_015915.5
p.E248K
c.742G>A
16 papers
NM_015915.5
p.V253I
c.757G>A
1 paper
NM_015915.5
p.H247Q
c.741T>A
1 paper
NM_015915.5
p.H247Q
c.741T>G
8 papers
NM_015915.5
p.H247P
c.740A>C
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