Homo sapiens pyruvate kinase L/R (PKLR), RefSeqGene (LRG_1136) on chro - Nucleotide

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Cryo-EM structure of human HCN3 channel and its regulation by cAMP. [J Biol Chem. 2024]
Cryo-EM structure of human HCN3 channel and its regulation by cAMP.
Yu B, Lu Q, Li J, Cheng X, Hu H, Li Y, Che T, Hua Y, Jiang H, Zhang Y, et al. J Biol Chem. 2024 Jun; 300(6):107288. Epub 2024 Apr 16.
PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants. [Blood Cells Mol Dis. 2024]
PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
Maciak K, Jurkiewicz A, Strojny W, Adamowicz-Salach A, Romiszewska M, Jackowska T, Kwiecinska K, Poznanski J, Gora M, Burzynska B. Blood Cells Mol Dis. 2024 Jul; 107:102841. Epub 2024 Mar 26.
Hyperpolarization-activated cyclic nucleotide-gated cation channel 3 promotes HCC development in a female-biased manner. [Cell Rep. 2023]
Hyperpolarization-activated cyclic nucleotide-gated cation channel 3 promotes HCC development in a female-biased manner.
Zhang Y, Liu X, Sun K, Luo Y, Yang J, Li A, Kiupel M, Fenske S, Biel M, Mi QS, et al. Cell Rep. 2023 Oct 31; 42(10):113157. Epub 2023 Sep 20.

RefSeq alternative splicing
See 15 reference mRNA sequence splice variants for the PKLR gene.

Protein
Protein sequence from Nucleotide coding region
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RNA
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SNP
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ribosome quality control complex subunit NEMF isoform X2 [Homo sapiens]
ribosome quality control complex subunit NEMF isoform X2 [Homo sapiens]
gi|1034588516|ref|XP_016877250.1|

Protein
Intellectual developmental disorder with speech delay and axonal peripheral neur...
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy

MedGen
C5436813[conceptid] (1)
MedGen
Homo sapiens small nuclear ribonucleoprotein D2 polypeptide (SNRPD2), transcript...
Homo sapiens small nuclear ribonucleoprotein D2 polypeptide (SNRPD2), transcript variant 2, mRNA
gi|237649048|ref|NM_177542.2|

Nucleotide

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Nucleotide