RGD:402522301 Rat Genome Database

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Variant: RGD:402522301 -  Homo sapiens

RGD ID: 402522301
ClinVar ID: CV3092085
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX6  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 31,812,298
GRCh38 11 31,790,750
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_720t1:c.1143G>T
NM_001368915.2:c.1033-731G>T
NM_001368916.2:c.1033-731G>T
NM_001368917.2:c.1033-731G>T
More... 		01/08/2023 intron variant uncertain significance ANTERIOR SEGMENT DYSGENESIS 5; Irido-corneo-trabecular dysgenesis
Disease Annotations     Click to see Annotation Detail View
aniridia 1  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PAX6
Accession:NM_001368928
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSSINRVLRNLASEKQQMGADGMYDKLR
MLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEK
EFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVS
SFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMG
TSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368892
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001310158
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001127612
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368904
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258465
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368925
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368906
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001604
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368894
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368924
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001310160
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368891
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368908
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368919
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 420
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKVQ
VLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS
SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQ
MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT
PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS
PSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368893
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368922
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368889
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001310161
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368920
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTVSNGCVSK
ILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQ
QMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRT
SFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSV
YQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPP
HMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258464
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368923
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368903
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368890
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368927
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368910
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 462
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEAFYCESGQTSEISEPHIRAPWNPAAPSQSQHAEQGGRSSAAEIKRAVAGANRLPALSLTCGGRTCLWLKPSPGSDSH
VCTGGHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVA
TPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTR
PGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFA
RERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTD
TALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISP
GVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368909
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368926
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368901
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368899
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258462
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368930
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT
PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS
PSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_000280
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368887
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368900
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368907
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368902
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368905
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258463
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368888
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368918
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 420
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKVQ
VLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS
SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQ
MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT
PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS
PSVNGRSYDTYTPPHMQTHINSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NR_160917
Location:EXON;NON-CODING

Gene Symbol:PAX6
Accession:NM_001368912
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368913
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368917
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310159
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368914
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368911
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368916
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368929
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368921
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368915
Location:INTRON

Gene Symbol:PAX6
Accession:NR_160916
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003790532 CLINVAR
MedGen C0344542 CLINVAR
NCBI Gene PAX6 CLINVAR
OMIM 106210 CLINVAR
  604229 CLINVAR
  607108 CLINVAR
SNOMED CT 204153003 CLINVAR