RGS12

Chr 4

regulator of G protein signaling 12

This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
0.61
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?
0.61LOEUF
pLI 0.000
Z-score 3.94
OE 0.43 (0.310.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.61Z-score
OE missense 0.94 (0.891.00)
873 obs / 925.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.310.61)
00.351.4
Missense OE?0.94 (0.891.00)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 24 / 55.7Missense obs/exp: 873 / 925.6Syn Z: -1.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RGS12 · 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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