TMEM191B

Chr 22

transmembrane protein 191B

NCBI Gene: 728229ENSG00000278558UniProt: P0C7N4

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

377
ClinVar variants
319
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— TMEM191B
📋
ClinVar Variants
319 Pathogenic / Likely Pathogenic· 46 VUS of 377 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

377 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic312
Likely Pathogenic7
VUS46
Likely Benign10
Benign2
312
Pathogenic
7
Likely Pathogenic
46
VUS
10
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————312
Likely Pathogenic
————7
VUS
————46
Likely Benign
————10
Benign
————2
Total—377

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TMEM191B · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for TMEM191B

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools