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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR4C46

OR4C46

57 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 29–303UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 4 subfamily C member 46

HGNC Previous Name

olfactory receptor, family 4, subfamily C, member 46

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 53 variants

9 papers

chr11:54603280 G>A

NM_001004703.1

p.S240F

c.719C>T

7tm_4

Exome: 52.7% (AC=768606, hom=205843)Genome: 46.5% (AC=70603, hom=18031)30 overlapping SVs

9 papers

chr11:54603244 C>T

NM_001004703.1

p.C252Y

c.755G>A

7tm_4

Exome: 52.7% (AC=765564, hom=205620)Genome: 46.9% (AC=71114, hom=18137)30 overlapping SVs

6 papers

chr11:54603820 G>A

NM_001004703.1

p.S60F

c.179C>T

7tm_4

Exome: 18.0% (AC=263221, hom=25157)Genome: 18.5% (AC=28035, hom=2752)30 overlapping SVs

6 papers

chr11:54603640 T>C

NM_001004703.1

p.H120R

c.359A>G

7tm_4

Exome: 12.1% (AC=176701, hom=13054)Genome: 13.0% (AC=19745, hom=1480)30 overlapping SVs

6 papers

chr11:54603368 G>A

NM_001004703.1

p.L211F

c.631C>T

7tm_4

Exome: 12.3% (AC=179617, hom=13090)Genome: 13.0% (AC=19707, hom=1479)30 overlapping SVs

5 papers

chr11:54603136 T>C

NM_001004703.1

p.K288R

c.863A>G

7tm_4

Exome: 69.6% (AC=828496, hom=299653)Genome: 67.6% (AC=101871, hom=35130)30 overlapping SVs

4 papers

chr11:54603089 C>T

NM_001004703.1

p.D304N

c.910G>A

7tm_4

Exome: 0.6% (AC=8321, hom=34)Genome: 0.5% (AC=819, hom=2)30 overlapping SVs

3 papers

chr11:54603395 C>G

NM_001004703.1

p.G202R

c.604G>C

7tm_4

exact variant not in gnomAD30 overlapping SVs

3 papers

chr11:54603395 C>T

NM_001004703.1

p.G202R

c.604G>A

7tm_4

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)30 overlapping SVs

2 papers

chr11:54603446 G>T

NM_001004703.1

p.L185I

c.553C>A

7tm_4

Exome: 5.6% (AC=81587, hom=2590)Genome: 4.1% (AC=6258, hom=192)30 overlapping SVs

2 papers

chr11:54603295 A>T

NM_001004703.1

p.L235H

c.704T>A

7tm_4

Exome: 1.0% (AC=14291, hom=91)Genome: 0.9% (AC=1367, hom=5)30 overlapping SVs

2 papers

chr11:54603233 A>G

NM_001004703.1

p.Y256H

c.766T>C

7tm_4

Exome: 0.0% (AC=4, hom=0)Genome: n/a30 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."