Varaico: Literature-Extracted Genetic Variants

Gene:OR8I2
Variant:p.V247A

OR8I2

48 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 31–307UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 8 subfamily I member 2

HGNC Previous Name

olfactory receptor, family 8, subfamily I, member 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001003750.1
p.V247A
c.740T>C
Surrounding Variants
1 paper
NM_001003750.1
p.I249V
c.745A>G
1 paper
NM_001003750.1
p.H243Y
c.727C>T
1 paper
NM_001003750.1
p.C240C
c.720C>T
1 paper
NM_001003750.1
p.A231S
c.691G>T
1 paper
NM_001003750.1
p.L225L
c.675G>T
1 paper
NM_001003750.1
p.S222L
c.665C>T
1 paper
NM_001003750.1
p.I221M
c.663C>G
1 paper
NM_001003750.1
p.T278K
c.833C>A
3 papers
NM_001003750.1
p.T278M
c.833C>T
1 paper
NM_001003750.1
p.T214I
c.641C>T
1 paper
NM_001003750.1
p.L207F
c.619C>T
2 papers
NM_001003750.1
p.Y289*
c.867C>G
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