Varaico: Literature-Extracted Genetic Variants

OR52D1

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 34–313UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 52 subfamily D member 1

HGNC Previous Names

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

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001005163.2

p.D213E

c.639T>A

Surrounding Variants

1 paper

NM_001005163.2

p.D213E

c.639T>G

1 paper

NM_001005163.2

p.A206V

c.617C>T

1 paper

NM_001005163.2

p.Y221F

c.662A>T

1 paper

NM_001005163.2

p.T204fs

c.610_611fs

1 paper

NM_001005163.2

p.T204fs

c.610_611fs

1 paper

NM_001005163.2

p.L203fs

c.607_608fs

2 papers

NM_001005163.2

p.G202R

c.604G>A

2 papers

NM_001005163.2

p.G202R

c.604G>C

3 papers

NM_001005163.2

p.G202insFs

c.604_605ins4

1 paper

NM_001005163.2

p.G202_L203insFs

c.606_607ins4

3 papers

NM_001005163.2

p.G202fs

c.604_605fs

1 paper

NM_001005163.2

p.R189Q

c.566G>A