Varaico: Literature-Extracted Genetic Variants

Gene:OR52B2
Variant:p.R229C

OR52B2

30 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 B member 2

HGNC Previous Name

olfactory receptor, family 52, subfamily B, member 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001004052.1
p.R229C
c.685C>T
Surrounding Variants
1 paper
NM_001004052.1
p.Y220S
c.659A>C
1 paper
NM_001004052.1
p.C243*
c.729T>A
2 papers
NM_001004052.1
p.P205S
c.613C>T
1 paper
NM_001004052.1
p.P256S
c.766C>T
1 paper
NM_001004052.1
p.R268C
c.802C>T
1 paper
NM_001004052.1
p.R268H
c.803G>A
1 paper
NM_001004052.1
p.R188P
c.563G>C
1 paper
NM_001004052.1
p.P271S
c.811C>T
1 paper
NM_001004052.1
p.V186A
c.557T>C
1 paper
NM_001004052.1
p.P177R
c.530C>G
1 paper
NM_001004052.1
p.L281F
c.841C>T
1 paper
NM_001004052.1
p.V283M
c.847G>A
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