Varaico: Literature-Extracted Genetic Variants

Gene:ERAL1
Variant:p.G22V

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.G22V
c.65G>T
Surrounding Variants
1 paper
NM_005702.4
p.Q13*
c.37C>T
1 paper
NM_005702.4
p.R10R
c.30G>A
1 paper
NM_005702.4
p.W6C
c.18G>C
1 paper
NM_005702.4
p.W6C
c.18G>T
1 paper
NM_005702.4
p.R56C
c.166C>T
1 paper
NM_005702.4
p.S82*
c.245C>A
1 paper
NM_005702.4
p.V102delFs
c.305_306delTC
1 paper
NM_005702.4
p.P108H
c.323C>A
1 paper
NM_005702.4
p.G135V
c.404G>T
1 paper
NM_005702.4
p.T147I
c.440C>T
1 paper
NM_005702.4
p.L166H
c.497T>A
1 paper
NM_005702.4
p.I172M
c.516C>G
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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."