rs765243004
This variant is located in the HERC2 gene.
▶ClinVar annotation
Developmental delay with autism spectrum disorder and gait instability
View on ClinVar →About HERC2
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
View all HERC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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