RGD:8557445 Rat Genome Database

Variant: RGD:8557445 - Homo sapiens

RGD ID:

8557445

RS ID:

rs121907923

ClinVar ID:

CV18514

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PAX6

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	31,823,264
GRCh38	11	31,801,716

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	Trait Synonyms
NG_008679.1:g.21246C>T NC_000011.10:g.31801716G>A NC_000011.9:g.31823264G>A NP_000271.1:p.Pro68Ser More...	08/18/2014	5 prime utr variant\|missense\|missense variant	pathogenic	childhood	Coloboma of optic nerve (disease); Congenital coloboma of the optic nerve; Optic nerve head pits, bilateral congenital

Disease Annotations Click to see Annotation Detail View

coloboma of optic nerve (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Optic disc coloboma (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PAX6
Accession:	NM_001368902
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368899
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368929
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368905
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368900
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001310161
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368901
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368909
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368908
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368907
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368903
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368906
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001310160
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368904
Location:	5UTRS;EXON

Gene Symbol:	PAX6
Accession:	NM_001368912
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV IMKKRTM*

Gene Symbol:	PAX6
Accession:	NM_001258464
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368891
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_000280
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368919
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKVQ VLDNQNVSNGCVSKILGRYYETGSIRSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQ MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS PSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001258463
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368914
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV IMKKRTM*

Gene Symbol:	PAX6
Accession:	NM_001368913
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV IMKKRTM*

Gene Symbol:	PAX6
Accession:	NM_001368892
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001127612
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368915
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCVNSVSDYGDTTVELS GKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYVIMKKRTM*

Gene Symbol:	PAX6
Accession:	NM_001258462
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368888
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368911
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	83

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPHKGHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGS IRSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDK LRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEAL EKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTP VSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYC VNSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLY VIMKKRTM*

Gene Symbol:	PAX6
Accession:	NM_001310158
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001258465
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368887
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368917
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCVNSVSDYGDTTVELS GKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYVIMKKRTM*

Gene Symbol:	PAX6
Accession:	NM_001368889
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368890
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368893
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368916
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCVNSVSDYGDTTVELS GKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYVIMKKRTM*

Gene Symbol:	PAX6
Accession:	NM_001368918
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKVQ VLDNQNVSNGCVSKILGRYYETGSIRSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQ MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS PSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001604
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368894
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368910
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	149

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCEAFYCESGQTSEISEPHIRAPWNPAAPSQSQHAEQGGRSSAAEIKRAVAGANRLPALSLTCGGRTCLWLKPSPGSDSH VCTGGHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVA TPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTR PGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFA RERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTD TALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISP GVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368920
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	93

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTVSNGCVSK ILGRYYETGSIRSRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQ QMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRT SFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSV YQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPP HMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001310159
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRSRAIGGSKPRVAT PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT ALTNTYSALPPMPSFTMANNLPMQVSAAGGGLHNPGPREVRSGSGPADLIGCVCTLESFSHYSDWLDQSSRRQSIPSLLS D*

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

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

Gene Symbol:	PAX6
Accession:	NM_001368927
Location:	INTRON

Gene Symbol:	PAX6
Accession:	NM_001368921
Location:	INTRON

Gene Symbol:	PAX6
Accession:	NM_001368923
Location:	INTRON

Gene Symbol:	PAX6
Accession:	NM_001368924
Location:	INTRON

Gene Symbol:	PAX6
Accession:	NM_001368930
Location:	INTRON

Gene Symbol:	PAX6
Accession:	NM_001368926
Location:	INTRON

Gene Symbol:	PAX6
Accession:	NM_001368922
Location:	INTRON

Gene Symbol:	PAX6
Accession:	NM_001368928
Location:	INTRON

Gene Symbol:	PAX6
Accession:	NM_001368925
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:12721955

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000003643	CLINVAR
dbSNP (RS)	rs121907923	CLINVAR
MedGen	C0155299	CLINVAR
NCBI Gene	PAX6	CLINVAR
OMIM	120430	CLINVAR
	607108	CLINVAR
OMIM Allele	607108.0017	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:8557445 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8557445 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar