Varaico: Literature-Extracted Genetic Variants

OR52H1

13 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 33–312UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 52 subfamily H member 1

HGNC Previous Names

olfactory receptor, family 52, subfamily H, member 1; olfactory receptor family 52 subfamily H member 1 (gene/pseudogene)

Papers

RefSeq ID

Protein change

DNA change

2 papers

NM_001005289.5

p.M1I

c.3G>C

2 papers

NM_001005289.5

p.M1I

c.3G>A

2 papers

NM_001005289.5

p.A83P

c.247G>C

1 paper

NM_001005289.5

p.M1I

c.3G>T

1 paper

NM_001005289.5

p.S7insFs

c.20dupG

1 paper

NM_001005289.5

p.A83V

c.248C>T

1 paper

NM_001005289.5

p.G98A

c.293G>C

1 paper

NM_001005289.5

p.C225S

c.673T>A

1 paper

NM_001005289.5

p.L230I

c.688C>A

1 paper

NM_001005289.5

p.V247F

c.739G>T

1 paper

NM_001005289.5

p.I283T

c.848T>C