Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
0.90
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.000
Z-score 1.91
OE 0.54 (0.340.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.28Z-score
OE missense 0.94 (0.831.07)
179 obs / 189.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.340.90)
00.351.4
Missense OE?0.94 (0.831.07)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 11 / 20.3Missense obs/exp: 179 / 189.9Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PARVG · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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