Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.R239C

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
61 papers
NM_015915.5
p.R239C
c.715C>T
Surrounding Variants
4 papers
NM_015915.5
p.R239G
c.715C>G
2 papers
NM_015915.5
p.R239H
c.716G>A
5 papers
NM_015915.5
p.R239L
c.716G>T
1 paper
NM_015915.5
p.E237V
c.710A>T
1 paper
NM_015915.5
p.K241delFs
c.722_723delAG
1 paper
NM_015915.5
p.K241fs
c.721_722fs
1 paper
NM_015915.5
p.E237Q
c.709G>C
1 paper
NM_015915.5
p.K241T
c.722A>C
1 paper
NM_015915.5
p.K234N
c.702A>C
1 paper
NM_015915.5
p.K234N
c.702A>T
1 paper
NM_015915.5
p.K234R
c.701A>G
2 papers
NM_015915.5
p.D230N
c.688G>A
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