Skip Header

Results

proteintext
http://purl.uniprot.org/uniprot/Q8N100In PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis; unknown pathological significance.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96F25In CMS15; results in a severe reduction in protein expression; loss of function mutation.
http://purl.uniprot.org/uniprot/P48165In CTRCT1; incomplete penetrance; results in loss of function.
http://purl.uniprot.org/uniprot/Q5IJ48In FSGS9; loss of function mutation.
http://purl.uniprot.org/uniprot/Q5IJ48In FSGS9; moderate loss of function mutation.
http://purl.uniprot.org/uniprot/Q07973In HCINF1; complete loss of function.
http://purl.uniprot.org/uniprot/Q07973In HCINF1; complete loss of function.
http://purl.uniprot.org/uniprot/Q07973In HCINF1; complete loss of function.
http://purl.uniprot.org/uniprot/Q07973In HCINF1; complete loss of function.
http://purl.uniprot.org/uniprot/P51788In LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type.
http://purl.uniprot.org/uniprot/P51788In LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type.
http://purl.uniprot.org/uniprot/P51795In NPHL2; abolishes the chloride currents; total loss of function.
http://purl.uniprot.org/uniprot/P51795In NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function.
http://purl.uniprot.org/uniprot/P51795In NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function.