SRPK3 Chromosome X

SRSF protein kinase 3
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
SRSF protein kinase family
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000184343
Associated Conditions (2)
Uterine corpus endometrial carcinoma
Familial cancer of breast
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS55910507 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Familial cancer of breast, Uterine corpus endometrial carcinoma
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