rs137853226

This is a variant in the GNAI2 gene that changes a arginine to an cysteine.

▶

ClinVar annotation

Pathogenic
1 submitter2 publications

Adrenocortical tumor, somatic; Ovarian granulosa cell tumor; Thecoma, somatic

View on ClinVar →

About GNAI2

The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

View all GNAI2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…