rs587777431

This is a variant in the TNPO3 gene that changes a arginine to an proline.

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ClinVar annotation

Pathogenic
1 submitter3 publications

Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMDD2)

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About TNPO3

The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Several protein-coding and non-coding transcript variants have been found for this gene. [provided by RefSeq, Apr 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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