RLN1
Chr 9relaxin 1
Also known as: H1, H1RLX, RLXH1, bA12D24.3.1, bA12D24.3.2
The protein encoded by this gene is relaxin, a hormone that acts with estrogen to dilate the birth canal by remodeling connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix. No disease associations with RLN1 mutations have been established in the provided data. The gene shows low constraint to loss-of-function variation (pLI = 0.007, LOEUF = 1.86), suggesting tolerance to inactivating variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RLN1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools