RGD:8591687 Rat Genome Database

Variant: RGD:8591687 - Homo sapiens

RGD ID:

8591687

RS ID:

rs193922283

ClinVar ID:

CV44864

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GCK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	44,184,775
GRCh38	7	44,145,176

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000007.14:g.44145176G>A NC_000007.13:g.44184775G>A NP_000153.1:p.Ser453Leu NP_277042.1:p.Ser454Leu More...	08/02/2022	missense\|missense variant	pathogenic\|likely pathogenic	adolescent\|adulthood\|childhood	1-5 / 10 000	Diabetes mellitus MODY type 2; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Diabetes mellitus, type II, autosomal dominant; Hyperinsulinemic hypoglycemia familial 3; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; MODY glucokinase-related; MODY type 2; none provided; Permanent diabetes mellitus of infancy; Type 2 diabetes mellitus; Type II diabetes mellitus

Disease Annotations Click to see Annotation Detail View

diabetes mellitus (IAGP)

maturity-onset diabetes of the young type 2 (IAGP)

permanent neonatal diabetes mellitus (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Type II diabetes mellitus (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	GCK
Accession:	NM_000162
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	453

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVLAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_001354801
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHP SFKERFHASVRRLTPSCEITFIESEEGSGRGAALVLAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_033508
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	452

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGG TNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK GILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQNV ELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEAS EQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDV MRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVLAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_033507
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	454

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDL GGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI DKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQ NVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGE ASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE DVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVLAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_001354803
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPRAGMGASLRPGTGPHPDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVM RITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVLAVACKKACMLGQ*

Gene Symbol:	GCK
Accession:	NM_001354800
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	453

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVLAVA*

Gene Symbol:	GCK
Accession:	NM_001354802
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVLAVA*

Gene Symbol:	GCK
Accession:	XM_024446707
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVLAVACKKA CMLGQ*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:14517956	PMID:16731834	PMID:18399931	PMID:25741868	PMID:26467025	PMID:28492532	PMID:36257325

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000517061	CLINVAR
	RCV000763582	CLINVAR
	RCV002271378	CLINVAR
	RCV002285258	CLINVAR
dbSNP (RS)	rs193922283	CLINVAR
MedGen	C0342277	CLINVAR
	C1833104	CLINVAR
	C3661900	CLINVAR
	C3888631	CLINVAR
NCBI Gene	GCK	CLINVAR
OMIM	125851	CLINVAR
	125853	CLINVAR
	138079	CLINVAR
	602485	CLINVAR
	606176	CLINVAR
SNOMED CT	44054006	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:8591687 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8591687 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar