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

2 papers

NM_001005163.2

p.I251T

c.752T>C

Surrounding Variants

1 paper

NM_001005163.2

p.H247insFs

c.740dupA

1 paper

NM_001005163.2

p.H247fs

c.739_740fs

1 paper

NM_001005163.2

p.S246S

c.738C>A

1 paper

NM_001005163.2

p.A258_F259del2

c.772_776del6

1 paper

NM_001005163.2

p.A258_F259del1

c.774_776delCTT

1 paper

NM_001005163.2

p.F260V

c.778T>G

1 paper

NM_001005163.2

p.G268R

c.802G>C

1 paper

NM_001005163.2

p.Y221F

c.662A>T

1 paper

NM_001005163.2

p.D213E

c.639T>A

1 paper

NM_001005163.2

p.D213E

c.639T>G

1 paper

NM_001005163.2

p.V290I

c.868G>A

1 paper

NM_001005163.2

p.P293L

c.878C>T