Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.N436D

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.N436D
c.1306A>G
Surrounding Variants
8 papers
NM_015915.5
p.N436del1
c.1306_1307delAAT
5 papers
NM_015915.5
p.N436K
c.1308T>A
5 papers
NM_015915.5
p.N436K
c.1308T>G
1 paper
NM_015915.5
p.K439insFs
c.1315dupA
1 paper
NM_015915.5
p.K439fs
c.1315_1316fs
1 paper
NM_015915.5
p.Y432C
c.1295A>G
1 paper
NM_015915.5
p.Y432H
c.1294T>C
7 papers
NM_015915.5
p.N440T
c.1319A>C
1 paper
NM_015915.5
p.Q431*
c.1291C>T
1 paper
NM_015915.5
p.I441T
c.1322T>C
1 paper
NM_015915.5
p.I430L
c.1288A>C
3 papers
NM_015915.5
p.I430V
c.1288A>G
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