Varaico: Literature-Extracted Genetic Variants

Gene:OR52R1
Variant:p.C249F

OR52R1

29 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 34–312UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 52 subfamily R member 1

HGNC Previous Names

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

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005177.3
p.C249F
c.746G>T
Surrounding Variants
1 paper
NM_001005177.3
p.H247Q
c.741T>G
1 paper
NM_001005177.3
p.H247Q
c.741T>A
3 papers
NM_001005177.3
p.S245A
c.733T>G
1 paper
NM_001005177.3
p.R244L
c.731G>T
1 paper
NM_001005177.3
p.A236P
c.706G>C
1 paper
NM_001005177.3
p.P272T
c.814C>A
1 paper
NM_001005177.3
p.P287T
c.859C>A
1 paper
NM_001005177.3
p.V205M
c.613G>A
1 paper
NM_001005177.3
p.N201Y
c.601A>T
1 paper
NM_001005177.3
p.D194N
c.580G>A
1 paper
NM_001005177.3
p.P161L
c.482C>T
1 paper
NM_001005177.3
p.W158L
c.473G>T
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