Varaico: Literature-Extracted Genetic Variants

Gene:OR52B2
Variant:p.S114*

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.S114*
c.341C>G
Surrounding Variants
1 paper
NM_001004052.1
p.S114*
c.341C>A
1 paper
NM_001004052.1
p.A115D
c.344C>A
1 paper
NM_001004052.1
p.R124H
c.371G>A
1 paper
NM_001004052.1
p.L132R
c.395T>G
1 paper
NM_001004052.1
p.W140*
c.419G>A
1 paper
NM_001004052.1
p.W140*
c.420G>A
1 paper
NM_001004052.1
p.R153*
c.457C>T
1 paper
NM_001004052.1
p.R167W
c.499C>T
1 paper
NM_001004052.1
p.P177R
c.530C>G
1 paper
NM_001004052.1
p.V186A
c.557T>C
1 paper
NM_001004052.1
p.R188P
c.563G>C
1 paper
NM_001004052.1
p.C34G
c.100T>G
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