Varaico: Literature-Extracted Genetic Variants

Gene:OR52K2
Variant:p.Q300H

OR52K2

31 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 K member 2

HGNC Previous Name

olfactory receptor, family 52, subfamily K, member 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001005172.2
p.Q300H
c.900A>T
Surrounding Variants
2 papers
NM_001005172.2
p.Q300H
c.900A>C
1 paper
NM_001005172.2
p.R302H
c.905G>A
1 paper
NM_001005172.2
p.T298T
c.894C>G
1 paper
NM_001005172.2
p.V308I
c.922G>A
1 paper
NM_001005172.2
p.R311G
c.931A>G
1 paper
NM_001005172.2
p.V289I
c.865G>A
1 paper
NM_001005172.2
p.R265H
c.794G>A
1 paper
NM_001005172.2
p.Y254*
c.762C>A
1 paper
NM_001005172.2
p.Y254*
c.762C>G
1 paper
NM_001005172.2
p.T242I
c.725C>T
1 paper
NM_001005172.2
p.Q225E
c.673C>G
1 paper
NM_001005172.2
p.L218M
c.652C>A
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