RMI2

Chr 16

RecQ mediated genome instability 2

Also known as: BLAP18, C16orf75

NCBI Gene: 116028ENSG00000175643UniProt: Q96E14

RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
LOEUF
—
Mechanism
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GeneReview available — RMI2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.019
Z-score -0.35
OE 1.31 (0.43–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.62Z-score
OE missense 1.30 (1.02–1.66)
45 obs / 34.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.31 (0.43–1.91)
0≤0.351.4
Missense OE?1.30 (1.02–1.66)
0≤0.61.4
Synonymous OE?1.54
0≤1.21.6
LoF obs/exp: 2 / 1.5Missense obs/exp: 45 / 34.7Syn Z: -1.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RMI2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients