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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR11H1

OR11H1

10 papers

RefSeq Summary

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family ...

Pfam Domains

7tm_4aa 35–312UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 11 subfamily H member 1

HGNC Alias Symbol

OR22-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr22:15528457 T>C

NM_001005239.2

p.F89S

c.266T>C

7tm_4

exact variant not in gnomAD1 overlapping SV

2 papers

chr22:15528379 T>C

NM_001005239.2

p.M63T

c.188T>C

7tm_4

Exome: 0.0% (AC=2, hom=0)Genome: n/a1 overlapping SV

1 paper

chr22:15528231 A>T

NM_001005239.2

p.N14Y

c.40A>T

exact variant not in gnomAD1 overlapping SV

1 paper

chr22:15528288 T>A

NM_001005239.2

p.S33T

c.97T>A

exact variant not in gnomAD1 overlapping SV

1 paper

chr22:15528309 G>A

NM_001005239.2

p.A40T

c.118G>A

7tm_4

Exome: 0.1% (AC=970, hom=0)Genome: 0.1% (AC=78, hom=0)1 overlapping SV

1 paper

chr22:15528454 A>G

NM_001005239.2

p.N88S

c.263A>G

7tm_4

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=7, hom=0)1 overlapping SV

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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."