FAM237A

protein-coding

family with sequence similarity 237 member A

Gene summary

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

MANE transcript

NM_001102659.3

Inheritance

—

ClinVar variants

U:2B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr2:206,642,487-206,649,365

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~6.9 kb
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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FAM237A variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 2
not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001102659.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total002103
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001102659.3RefSeqNP_001096129.12MANE Select
ENST00000441223.4EnsemblENSP00000490802.12MANE Select
ENST00000864981.1EnsemblENSP00000535040.12Standard
ENST00000864981.2EnsemblENSP00000535040.12Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

  • integral component of membrane

dbNSFP Gene Annotations

Source: dbNSFP

For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.