GPRIN3

Chr 4

GPRIN family member 3

Also known as: GRIN3

The GPRIN3 protein is predicted to be involved in neuron projection development and may play a role in neurite outgrowth. Mutations in this gene have been associated with neurodevelopmental disorders, though the specific clinical phenotypes and inheritance patterns are not well-established from the available data. The gene appears to be tolerant of loss-of-function variants based on constraint metrics.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
3
Pubs (1 yr)
27
P/LP submissions
0%
P/LP missense
1.47
LOEUF
Mechanism
Clinical SummaryGPRIN3
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
27 unique Pathogenic / Likely Pathogenic· 127 VUS of 168 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.47LOEUF
pLI 0.000
Z-score -0.02
OE 1.01 (0.701.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.01Z-score
OE missense 1.14 (1.061.23)
487 obs / 428.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.01 (0.701.47)
00.351.4
Missense OE1.14 (1.061.23)
00.61.4
Synonymous OE1.20
01.21.6
LoF obs/exp: 19 / 18.9Missense obs/exp: 487 / 428.0Syn Z: -2.12

ClinVar Variant Classifications

168 submitted variants in ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic2
VUS127
Likely Benign12
Benign1
25
Pathogenic
2
Likely Pathogenic
127
VUS
12
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
25
0
25
Likely Pathogenic
0
0
2
0
2
VUS
0
125
2
0
127
Likely Benign
0
10
1
1
12
Benign
0
1
0
0
1
Total0136301167

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GPRIN3 · 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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Clinical Literature
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