Varaico: Literature-Extracted Genetic Variants

Gene:OR52A1
Variant:p.R124H

OR52A1

39 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 A member 1

HGNC Alias Symbol

HPFH1OR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012375.3
p.R124H
c.371G>A
Surrounding Variants
1 paper
NM_012375.3
p.E113Q
c.337G>C
1 paper
NM_012375.3
p.V143A
c.428T>C
1 paper
NM_012375.3
p.T148A
c.442A>G
1 paper
NM_012375.3
p.L84P
c.251T>C
1 paper
NM_012375.3
p.L84V
c.250C>G
1 paper
NM_012375.3
p.K82R
c.245A>G
1 paper
NM_012375.3
p.R168Q
c.503G>A
1 paper
NM_012375.3
p.Y172delFs
c.514delA
1 paper
NM_012375.3
p.Y172fs
c.514_515fs
1 paper
NM_012375.3
p.L75R
c.224T>G
1 paper
NM_012375.3
p.G69A
c.206G>C
1 paper
NM_012375.3
p.R55C
c.163C>T
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