Varaico: Literature-Extracted Genetic Variants

Gene:ERAL1
Variant:p.Y396H

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.Y396H
c.1186T>C
Surrounding Variants
1 paper
NM_005702.4
p.P365P
c.1095T>C
1 paper
NM_005702.4
p.H359Q
c.1077C>A
1 paper
NM_005702.4
p.H359Q
c.1077C>G
1 paper
NM_005702.4
p.R353*
c.1057C>T
1 paper
NM_005702.4
p.T340S
c.1019C>G
1 paper
NM_005702.4
p.T340I
c.1019C>T
1 paper
NM_005702.4
p.T340S
c.1018A>T
1 paper
NM_005702.4
p.Q326fs
c.976_977fs
1 paper
NM_005702.4
p.Q326insFs
c.977_978insCA
1 paper
NM_005702.4
p.Q313*
c.937C>T
1 paper
NM_005702.4
p.I305_F306del1
c.914_916delTCT
1 paper
NM_005702.4
p.I305_F306del2
c.913_917del6
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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."