The protein encoded by VCY1B is a small, positively charged nuclear protein that may function in spermatogenesis and is expressed exclusively in male germ cells. This gene is located on the Y chromosome and inherited paternally from father to son. No pediatric neurological diseases have been established to result from mutations in this gene based on the available information.

OMIMResearchSummary from RefSeq, UniProt
GOFmechanism

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.6164th %ile
GOF
0.6737th %ile
LOF
0.2092th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

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

VCY1B · 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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