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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR51A4

OR51A4

33 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 33–311UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 51 subfamily A member 4

HGNC Previous Name

olfactory receptor, family 51, subfamily A, member 4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 26 variants

4 papers

chr11:4946398 G>C

NM_001005329.2

p.Q235E

c.703C>G

7tm_4

Exome: 0.4% (AC=5036, hom=2)Genome: 2.8% (AC=3421, hom=1)12 overlapping SVs

3 papers

chr11:4946887 C>T

NM_001005329.2

p.D72N

c.214G>A

7tm_4

Exome: 3.3% (AC=47478, hom=2022)Genome: 2.8% (AC=4125, hom=413)12 overlapping SVs

3 papers

chr11:4946310 C>T

NM_001005329.2

p.R264H

c.791G>A

7tm_4

Exome: 0.4% (AC=6328, hom=26)Genome: 0.3% (AC=429, hom=0)12 overlapping SVs

2 papers

chr11:4947048 C>G

NM_001005329.2

p.G18A

c.53G>C

Exome: 2.1% (AC=29852, hom=28)Genome: 2.0% (AC=2701, hom=10)13 overlapping SVs

2 papers

chr11:4946901 A>G

NM_001005329.2

p.M67T

c.200T>C

7tm_4

Exome: 2.2% (AC=32050, hom=1288)Genome: 2.0% (AC=2993, hom=303)12 overlapping SVs

2 papers

chr11:4946604 C>G

NM_001005329.2

p.R166T

c.497G>C

7tm_4

Exome: 0.9% (AC=11532, hom=2724)Genome: 1.6% (AC=2156, hom=41)12 overlapping SVs

2 papers

chr11:4946448 G>A

NM_001005329.2

p.S218F

c.653C>T

7tm_4

Exome: 11.8% (AC=126378, hom=9238)Genome: 16.9% (AC=20350, hom=833)12 overlapping SVs

2 papers

chr11:4946421 A>G

NM_001005329.2

p.L227P

c.680T>C

7tm_4

Exome: 25.9% (AC=312556, hom=57971)Genome: 29.0% (AC=37967, hom=4768)12 overlapping SVs

2 papers

chr11:4946238 G>A

NM_001005329.2

p.T288M

c.863C>T

7tm_4

Exome: 84.7% (AC=1237814, hom=524934)Genome: 83.4% (AC=126579, hom=53012)12 overlapping SVs

1 paper

chr11:4947080 T>TG

NM_001005329.2

p.S7insFs

c.20dupC

exact variant not in gnomAD13 overlapping SVs

1 paper

chr11:4946925 T>C

NM_001005329.2

p.E59G

c.176A>G

7tm_4

Exome: 0.8% (AC=11049, hom=326)Genome: 1.4% (AC=2063, hom=90)12 overlapping SVs

1 paper

chr11:4946828 A>G

NM_001005329.2

p.A91A

c.273T>C

7tm_4

Exome: 0.0% (AC=146, hom=29)Genome: 0.1% (AC=112, hom=15)12 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."