RGD:405017843 Rat Genome Database

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Variant: RGD:405017843 -  Homo sapiens

RGD ID: 405017843
ClinVar ID: CV2856023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 44,185,130
GRCh38 7 44,145,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1074t1:c.1219G>C
LRG_1074t2:c.1222G>C
NM_033508.3:c.1216G>C
NM_000162.5:c.1219G>C
More...
01/04/2024 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_033508
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGG
TNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK
GILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQNV
ELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEAS
EQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDV
MRITVRVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_000162
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVRVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:XM_024446707
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVRVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKA
CMLGQ*

Gene Symbol:GCK
Accession:NM_033507
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 408
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDL
GGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI
DKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQ
NVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGE
ASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE
DVMRITVRVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354803
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRAGMGASLRPGTGPHPDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVM
RITVRVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354801
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVRVDGSVYKLHP
SFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354800
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVRVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVA*

Gene Symbol:GCK
Accession:NM_001354802
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCSAGLAGVINRMRESRSEDVMRITVRVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVA*

Variant Samples
Additional References at PubMed
PMID:11393552   PMID:19790256   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003577301 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR