Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR10H1

OR10H1

31 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 31–309UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 10 subfamily H member 1

HGNC Previous Name

olfactory receptor, family 10, subfamily H, member 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 17 variants

8 papers

chr19:15807367 G>T

NM_013940.4

p.A224D

c.671C>A

7tm_4

Exome: 0.3% (AC=3962, hom=32)Genome: 1.7% (AC=2562, hom=74)16 overlapping SVs

3 papers

chr19:15807992 C>G

NM_013940.4

p.G16R

c.46G>C

Exome: 19.6% (AC=286018, hom=28350)Genome: 17.2% (AC=26097, hom=2362)16 overlapping SVs

3 papers

chr19:15807868 G>A

NM_013940.4

p.T57M

c.170C>T

7tm_4

Exome: 0.0% (AC=124, hom=0)Genome: 0.0% (AC=12, hom=0)16 overlapping SVs

3 papers

chr19:15807834 G>C

NM_013940.4

p.V68V

c.204C>G

7tm_4

exact variant not in gnomAD16 overlapping SVs

3 papers

chr19:15807428 A>C

NM_013940.4

p.C204G

c.610T>G

7tm_4

Exome: 0.3% (AC=3793, hom=0)Genome: 0.0% (AC=5, hom=0)16 overlapping SVs

3 papers

chr19:15807391 A>G

NM_013940.4

p.L216P

c.647T>C

7tm_4

Exome: 0.1% (AC=1267, hom=0)Genome: 0.0% (AC=14, hom=0)16 overlapping SVs

2 papers

chr19:15807673 C>T

NM_013940.4

p.R122H

c.365G>A

7tm_4

Exome: 0.1% (AC=1078, hom=13)Genome: 0.7% (AC=1059, hom=6)16 overlapping SVs

1 paper

chr19:15807995 C>T

NM_013940.4

p.V15I

c.43G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr19:15807966 C>A

NM_013940.4

p.Q24H

c.72G>T

exact variant not in gnomAD16 overlapping SVs

1 paper

chr19:15807966 C>G

NM_013940.4

p.Q24H

c.72G>C

exact variant not in gnomAD16 overlapping SVs

1 paper

chr19:15807836 C>T

NM_013940.4

p.V68I

c.202G>A

7tm_4

Exome: 0.0% (AC=11, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr19:15807624 C>A

NM_013940.4

p.P138P

c.414G>T

7tm_4

Exome: 4.4% (AC=64334, hom=1617)Genome: 3.1% (AC=4766, hom=95)16 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."