Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.S398Y

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
13 papers
NM_015915.5
p.S398Y
c.1193C>A
Surrounding Variants
6 papers
NM_015915.5
p.S398F
c.1193C>T
1 paper
NM_015915.5
p.S398P
c.1192T>C
2 papers
NM_015915.5
p.L401P
c.1202T>C
1 paper
NM_015915.5
p.F402L
c.1204T>C
2 papers
NM_015915.5
p.F402V
c.1204T>G
2 papers
NM_015915.5
p.R403delFs
c.1207delC
1 paper
NM_015915.5
p.F402L
c.1206C>A
1 paper
NM_015915.5
p.F402L
c.1206C>G
1 paper
NM_015915.5
p.R403fs
c.1207_1208fs
1 paper
NM_015915.5
p.R403Q
c.1208G>A
5 papers
NM_015915.5
p.R403P
c.1208G>C
1 paper
NM_015915.5
p.G404R
c.1210G>A
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