Varaico: Literature-Extracted Genetic Variants

Gene:OR5A2
Variant:p.C128*

OR5A2

33 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 23–309UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 5 subfamily A member 2

HGNC Previous Name

olfactory receptor, family 5, subfamily A, member 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001954.2
p.C128*
c.384C>A
Surrounding Variants
1 paper
NM_001001954.2
p.R123Q
c.368G>A
1 paper
NM_001001954.2
p.A149D
c.446C>A
3 papers
NM_001001954.2
p.F103L
c.309T>G
3 papers
NM_001001954.2
p.F103L
c.309T>A
1 paper
NM_001001954.2
p.F154C
c.461T>G
3 papers
NM_001001954.2
p.F103L
c.307T>C
1 paper
NM_001001954.2
p.I159T
c.476T>C
1 paper
NM_001001954.2
p.G97G
c.291C>T
2 papers
NM_001001954.2
p.T92I
c.275C>T
7 papers
NM_001001954.2
p.P172L
c.515C>T
1 paper
NM_001001954.2
p.I72I
c.216C>T
1 paper
NM_001001954.2
p.P59S
c.175C>T
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