Varaico: Literature-Extracted Genetic Variants

Gene:ATL2
Variant:p.Q218_L219Splc

ATL2

53 papers

Pfam Domains

GBPaa 1–170UCSCGuanylate-binding protein, N-terminal domain
GBPaa 70–341UCSCGuanylate-binding protein, N-terminal domain
GBP_Caa 172–304UCSCGuanylate-binding protein, C-terminal domain
GBP_Caa 343–474UCSCGuanylate-binding protein, C-terminal domain

Gene Aliases

HGNC Name

atlastin GTPase 2

HGNC Previous Symbol

ARL6IP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135673.4
p.Q218_L219Splc
c.654+120A>T
Surrounding Variants
1 paper
NM_001135673.4
p.Q237R
c.710A>G
1 paper
NM_001135673.4
p.L242F
c.726G>T
2 papers
NM_001135673.4
p.R244Q
c.731G>A
1 paper
NM_001135673.4
p.I184V
c.550A>G
1 paper
NM_001135673.4
p.K166R
c.497A>G
1 paper
NM_001135673.4
p.T138Fs
c.413delinsTTTACFs
1 paper
NM_001135673.4
p.L134L
c.402G>A
4 papers
NM_001135673.4
p.N272S
c.815A>G
1 paper
NM_001135673.4
p.V280I
c.838G>A
1 paper
NM_001135673.4
p.S289L
c.866C>T
1 paper
NM_001135673.4
p.G292D
c.875G>A
1 paper
NM_001135673.4
p.H298Y
c.892C>T
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