Varaico: Literature-Extracted Genetic Variants

Gene:ERAL1
Variant:p.L166H

ERAL1

44 papers

RefSeq Summary

The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly o...

Pfam Domains

MMR_HSR1aa 115–237UCSC50S ribosome-binding GTPase

Gene Aliases

HGNC Name

Era like 12S mitochondrial rRNA chaperone 1

HGNC Alias Symbol

HERA-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005702.4
p.L166H
c.497T>A
Surrounding Variants
1 paper
NM_005702.4
p.I172M
c.516C>G
1 paper
NM_005702.4
p.P174S
c.520C>T
1 paper
NM_005702.4
p.R179K
c.536G>A
1 paper
NM_005702.4
p.H181R
c.542A>G
1 paper
NM_005702.4
p.V201G
c.602T>G
1 paper
NM_005702.4
p.D205Y
c.613G>T
1 paper
NM_001317985.2
p.V205F
c.613G>T
1 paper
NM_005702.4
p.V234A
c.701T>C
5 papers
NM_005702.4
p.N236I
c.707A>T
1 paper
NM_001317985.2
p.K236M
c.707A>T
1 paper
NM_005702.4
p.Q243H
c.729G>C
1 paper
NM_005702.4
p.L247H
c.740T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."