Varaico: Literature-Extracted Genetic Variants

Gene:OR5AC2
Variant:p.L213*

OR5AC2

51 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 33–309UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 5 subfamily AC member 2

HGNC Alias Symbol

HSA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_054106.1
p.L213*
c.638T>G
Surrounding Variants
1 paper
NM_054106.1
p.L213*
c.638T>A
1 paper
NM_054106.1
p.G205C
c.613G>T
1 paper
NM_054106.1
p.R222C
c.664C>T
4 papers
NM_054106.1
p.M200I
c.600G>A
4 papers
NM_054106.1
p.M200I
c.600G>C
4 papers
NM_054106.1
p.M200I
c.600G>T
1 paper
NM_054106.1
p.K229fs
c.685_686fs
1 paper
NM_054106.1
p.E233K
c.697G>A
1 paper
NM_054106.1
p.G244G
c.732C>A
1 paper
NM_054106.1
p.G244G
c.732C>T
1 paper
NM_054106.1
p.C181Y
c.542G>A
1 paper
NM_054106.1
p.C181R
c.541T>C
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