Home > Gene Browser > PLEKHG4

PLEKHG4

Synonyms
ARHGEF44, PRTPHN1, SCA4
External resources
Summary
The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants.

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
1,439
Likely benign
6,121
Benign
3,191

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PLEKHG4 gene.

Phenotype class
Patients in 3billion (%)

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