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RAET1E

Synonyms
LETAL, N2DL-4, NKG2DL4, RAET1E2, RL-4, ULBP4, bA350J20.7
External resources
Summary
This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,436
Likely benign
237
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RAET1E gene.

Phenotype class
Patients in 3billion (%)

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