Varaico: Literature-Extracted Genetic Variants

Gene:OR4E2
Variant:p.L144L

OR4E2

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 31–304UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 4 subfamily E member 2

HGNC Previous Names

olfactory receptor, family 4, subfamily E, member 2; olfactory receptor family 4 subfamily E member 2 (gene/pseudogene)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001912.3
p.L144L
c.432T>A
Surrounding Variants
1 paper
NM_001001912.3
p.L150fs
c.448_449fs
1 paper
NM_001001912.3
p.Y132*
c.396C>A
1 paper
NM_001001912.3
p.Y132*
c.396C>G
1 paper
NM_001001912.3
p.R165P
c.494G>C
3 papers
NM_001001912.3
p.M118V
c.352A>G
1 paper
NM_001001912.3
p.I116I
c.348C>T
1 paper
NM_001001912.3
p.I173M
c.519T>G
1 paper
NM_001001912.3
p.T77I
c.230C>T
1 paper
NM_001001912.3
p.L222L
c.664C>T
1 paper
NM_001001912.3
p.L66fs
c.196_197fs
1 paper
NM_001001912.3
p.L66delFs
c.197delT
1 paper
NM_001001912.3
p.S224P
c.670T>C
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