LitVar 2.0

Advanced semantic search engine linking genomic variant data in PubMed, PMC, and dbSNP.

Key Info

• URL: https://www.ncbi.nlm.nih.gov/research/bionlp/Tools/
• Category: Literature
• API: Yes
• Free: Free
• ACMG Relevance: PS4, PM5

Why It Matters

Employs tmVar to extract and normalize disparate variant nomenclatures, ensuring no relevant publication is missed due to syntax errors.

How to Use

See https://www.ncbi.nlm.nih.gov/research/bionlp/Tools/ for documentation and access.

STRC Research Usage

VERIFIED — No literature records found for E1659A specifically. Confirms this is a novel/unreported variant.

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]