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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR11L1

OR11L1

41 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 31–308UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 11 subfamily L member 1

HGNC Previous Name

olfactory receptor, family 11, subfamily L, member 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 58 variants

4 papers

chr1:247841385 C>G

NM_001001959.1

p.R171P

c.512G>C

7tm_4

Exome: 88.9% (AC=1299614, hom=578883)Genome: 85.1% (AC=129511, hom=55630)19 overlapping SVs

3 papers

chr1:247841575 C>T

NM_001001959.1

p.G108S

c.322G>A

7tm_4

Exome: 88.9% (AC=1299264, hom=578717)Genome: 85.1% (AC=129381, hom=55575)19 overlapping SVs

2 papers

chr1:247841737 G>A

NM_001001959.1

p.R54*

c.160C>T

7tm_4

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

2 papers

chr1:247841548 A>G

NM_001001959.1

p.F117L

c.349T>C

7tm_4

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=48, hom=0)19 overlapping SVs

2 papers

chr1:247841546 G>C

NM_001001959.1

p.F117L

c.351C>G

7tm_4

Exome: 89.1% (AC=1301901, hom=580803)Genome: 86.6% (AC=131733, hom=57392)19 overlapping SVs

2 papers

chr1:247841546 G>T

NM_001001959.1

p.F117L

c.351C>A

7tm_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr1:247841887 G>C

NM_001001959.1

p.Q4E

c.10C>G

Exome: 0.0% (AC=177, hom=1)Genome: 0.0% (AC=35, hom=0)19 overlapping SVs

1 paper

chr1:247841860 G>C

NM_001001959.1

p.Q13E

c.37C>G

Exome: 0.0% (AC=86, hom=0)Genome: 0.0% (AC=8, hom=0)19 overlapping SVs

1 paper

chr1:247841755 C>T

NM_001001959.1

p.V48M

c.142G>A

7tm_4

Exome: 0.0% (AC=194, hom=1)Genome: 0.0% (AC=21, hom=0)19 overlapping SVs

1 paper

chr1:247841742 C>T

NM_001001959.1

p.G52D

c.155G>A

7tm_4

Exome: 0.2% (AC=2561, hom=56)Genome: 1.5% (AC=2342, hom=64)19 overlapping SVs

1 paper

chr1:247841736 C>T

NM_001001959.1

p.R54Q

c.161G>A

7tm_4

Exome: 0.0% (AC=198, hom=0)Genome: 0.0% (AC=14, hom=0)19 overlapping SVs

1 paper

chr1:247841725 G>C

NM_001001959.1

p.P58A

c.172C>G

7tm_4

exact variant not in gnomAD19 overlapping SVs

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