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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPN1MW3

OPN1MW3

Xq28 (UCSC)GTEx

15 papers

Pfam Domains

7tm_1aa 70–322UCSC7 transmembrane receptor (rhodopsin family)

7tm_1aa 70–322UCSC7 transmembrane receptor (rhodopsin family)

7tm_1aa 70–322UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

opsin 1, medium wave sensitive 3

HGNC Previous Name

opsin 1 (cone pigments), medium-wave-sensitive 3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chrX:154266660 T>C

NM_001330067.2

p.C203R

c.607T>C

exact variant not in gnomAD12 overlapping SVs

chrX:154268460 G>A

NM_001330067.2

p.A285T

c.853G>A

exact variant not in gnomAD12 overlapping SVs

chrX:154268527 C>T

NM_001330067.2

p.P307L

c.920C>T

exact variant not in gnomAD12 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."