OGG1

Chr 3

8-oxoguanine DNA glycosylase

Also known as: HMMH, HOGG1, MUTM, OGH1

The protein is a DNA repair enzyme that excises 8-oxoguanine and other oxidative DNA lesions, with both glycosylase and lyase activities for removing mutagenic base damage. Mutations cause renal cell carcinoma (clear cell type), though this appears to be a somatic rather than germline condition. The gene is highly tolerant to loss-of-function variation (very low pLI score), suggesting that germline mutations may not typically cause severe developmental disorders.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOEUF 1.301 OMIM phenotype
Clinical SummaryOGG1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.30LOEUF
pLI 0.000
Z-score 0.49
OE 0.89 (0.621.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.57Z-score
OE missense 1.10 (1.001.22)
271 obs / 245.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.89 (0.621.30)
00.351.4
Missense OE1.10 (1.001.22)
00.61.4
Synonymous OE1.15
01.21.6
LoF obs/exp: 19 / 21.5Missense obs/exp: 271 / 245.8Syn Z: -1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OGG1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗