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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR7A17

OR7A17

26 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 7 subfamily A member 17

HGNC Alias Symbol

HTPCRX19

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 32 variants

3 papers

chr19:14880647 C>T

NM_030901.2

p.A237T

c.709G>A

7tm_4

Exome: 3.0% (AC=43951, hom=818)Genome: 4.8% (AC=7326, hom=249)13 overlapping SVs

2 papers

chr19:14881119 T>A

NM_030901.2

p.P79P

c.237A>T

7tm_4

exact variant not in gnomAD14 overlapping SVs

2 papers

chr19:14881069 C>T

NM_030901.2

p.G96D

c.287G>A

7tm_4

Exome: 1.0% (AC=15109, hom=100)Genome: 0.6% (AC=971, hom=5)14 overlapping SVs

1 paper

chr19:14881313 G>C

NM_030901.2

p.L15V

c.43C>G

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:14881246 A>G

NM_030901.2

p.V37A

c.110T>C

7tm_4

Exome: 0.1% (AC=881, hom=14)Genome: 0.6% (AC=906, hom=13)14 overlapping SVs

1 paper

chr19:14881233 C>T

NM_030901.2

p.G41G

c.123G>A

7tm_4

Exome: 33.0% (AC=481657, hom=82407)Genome: 29.8% (AC=45204, hom=7468)14 overlapping SVs

1 paper

chr19:14881219 A>G

NM_030901.2

p.I46T

c.137T>C

7tm_4

Exome: 31.1% (AC=454160, hom=73624)Genome: 28.2% (AC=42836, hom=6702)14 overlapping SVs

1 paper

chr19:14881209 T>A

NM_030901.2

p.T49T

c.147A>T

7tm_4

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:14881179 C>CN

NM_030901.2

p.M59fs

c.175_176fs

7tm_4

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:14881151 C>A

NM_030901.2

p.A69S

c.205G>T

7tm_4

Exome: 31.1% (AC=454636, hom=73329)Genome: 28.2% (AC=42789, hom=6671)14 overlapping SVs

1 paper

chr19:14881109 T>C

NM_030901.2

p.I83V

c.247A>G

7tm_4

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=4, hom=0)14 overlapping SVs

1 paper

chr19:14881028 A>G

NM_030901.2

p.L110L

c.328T>C

7tm_4

exact variant not in gnomAD14 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."