Varaico: Literature-Extracted Genetic Variants

Gene:ATL2
Variant:p.E556K

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
2 papers
NM_001135673.4
p.E556K
c.1666G>A
Surrounding Variants
1 paper
NM_001135673.4
p.E555K
c.1663G>A
1 paper
NM_001135673.4
p.K522T
c.1565A>C
1 paper
NM_001135673.4
p.V507insFs
c.1520_1521insA
1 paper
NM_001135673.4
p.M482V
c.1444A>G
1 paper
NM_001135673.4
p.R443C
c.1327C>T
1 paper
NM_001135673.4
p.R442C
c.1324C>T
1 paper
NM_001135673.4
p.D420H
c.1258G>C
1 paper
NM_001135673.4
p.Y408C
c.1223A>G
1 paper
NM_001135673.4
p.D405Y
c.1213G>T
1 paper
NM_001135673.4
p.A381V
c.1142C>T
1 paper
NM_001135673.4
p.S373A
c.1117T>G
1 paper
NM_001135673.4
p.K372E
c.1114A>G
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