Varaico: Literature-Extracted Genetic Variants

Gene:ERAL1
Variant:p.P279insFs

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.P279insFs
c.837dupC
Surrounding Variants
1 paper
NM_005702.4
p.S280fs
c.838_839fs
1 paper
NM_005702.4
p.P274S
c.820C>T
1 paper
NM_005702.4
p.I305_F306del2
c.913_917del6
1 paper
NM_005702.4
p.I305_F306del1
c.914_916delTCT
1 paper
NM_005702.4
p.L247H
c.740T>A
1 paper
NM_005702.4
p.Q313*
c.937C>T
1 paper
NM_005702.4
p.Q243H
c.729G>C
1 paper
NM_001317985.2
p.K236M
c.707A>T
5 papers
NM_005702.4
p.N236I
c.707A>T
1 paper
NM_005702.4
p.V234A
c.701T>C
1 paper
NM_005702.4
p.Q326insFs
c.977_978insCA
1 paper
NM_005702.4
p.Q326fs
c.976_977fs
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