Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.F452S

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.F452S
c.1355T>C
Surrounding Variants
2 papers
NM_015915.5
p.L451Q
c.1352T>A
1 paper
NM_015915.5
p.L451_F452delFs
c.1352_1356del5
1 paper
NM_015915.5
p.V454I
c.1360G>A
1 paper
NM_015915.5
p.T450_L451delFs
c.1348_1352del5
1 paper
NM_015915.5
p.F456L
c.1366T>C
1 paper
NM_015915.5
p.F456L
c.1368T>A
1 paper
NM_015915.5
p.F456L
c.1368T>G
1 paper
NM_015915.5
p.P448_L451del4
c.1342_1352del12
1 paper
NM_015915.5
p.T458P
c.1372A>C
8 papers
NM_015915.5
p.Y459C
c.1376A>G
1 paper
NM_015915.5
p.A445V
c.1334C>T
1 paper
NM_015915.5
p.H443P
c.1328A>C
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