RGD:8557433 Rat Genome Database

Variant: RGD:8557433 - Homo sapiens

RGD ID:

8557433

RS ID:

rs121907913

ClinVar ID:

CV18502

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PAX6

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	31,824,317
GRCh38	11	31,802,769

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
NG_008679.1:g.20193C>G NC_000011.10:g.31802769G>C NC_000011.9:g.31824317G>C NP_000271.1:p.Arg26Gly More...	08/15/2019	5 prime utr variant\|missense\|missense variant	pathogenic\|likely pathogenic	neonatal/infancy\|childhood	<1 / 1 000 000\|1-9 / 100 000	Microphthalmia/coloboma 12

Disease Annotations Click to see Annotation Detail View

aniridia 1 (IAGP)

anterior segment dysgenesis 5 (IAGP)

coloboma (IAGP)

Variant Details

Variant Transcripts

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

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

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

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

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

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

Gene Symbol:	PAX6
Accession:	NM_001368908
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_001368905
Location:	5UTRS;EXON

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

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

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

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

Gene Symbol:	PAX6
Accession:	NM_001310159
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368919
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKVQ VLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQ MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS PSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368887
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368926
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001310158
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368927
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368916
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368891
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001258462
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001258463
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368923
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368915
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368921
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSK KKKKKKKERKYCVNSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFI HFGVLFVNGHLYVIMKKRTM*

Gene Symbol:	PAX6
Accession:	NM_001368912
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368911
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	27

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

Gene Symbol:	PAX6
Accession:	NM_001368928
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQVSNGCVSSINRVLRNLASEKQQMGADGMYDKLR MLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEK EFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVS SFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMG TSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368925
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368913
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368892
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368917
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368889
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368924
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001604
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001258464
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001258465
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368910
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	107

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

Gene Symbol:	PAX6
Accession:	NM_001368922
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368920
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTVSNGCVSK ILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQ QMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRT SFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSV YQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPP HMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368894
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001127612
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_000280
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368890
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368888
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

Gene Symbol:	PAX6
Accession:	NM_001368893
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368918
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTGQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKVQ VLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQ MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS PSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:	PAX6
Accession:	NM_001368914
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	26

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

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_001368930
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:1251879	PMID:1684738	PMID:1954207	PMID:6988567	PMID:14561779	PMID:25741868	PMID:31700164

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000003627	CLINVAR
	RCV000003628	CLINVAR
	RCV003883463	CLINVAR
dbSNP (RS)	rs121907913	CLINVAR
MedGen	C0344542	CLINVAR
	CN263371	CLINVAR
NCBI Gene	PAX6	CLINVAR
OMIM	106210	CLINVAR
	120200	CLINVAR
	607108	CLINVAR
OMIM Allele	607108.0004	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)

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Variant: RGD:8557433 - Homo sapiens

Imported Disease Annotations - ClinVar