Varaico: Literature-Extracted Genetic Variants

Gene:OR52E4
Variant:p.I199V

OR52E4

30 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 33–311UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 52 subfamily E member 4

HGNC Previous Name

olfactory receptor, family 52, subfamily E, member 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005165.2
p.I199V
c.595A>G
Surrounding Variants
1 paper
NM_001005165.2
p.R184M
c.551G>T
1 paper
NM_001005165.2
p.R224R
c.670A>C
1 paper
NM_001005165.2
p.N174D
c.520A>G
5 papers
NM_001005165.2
p.F227L
c.679T>C
5 papers
NM_001005165.2
p.F227L
c.681T>A
5 papers
NM_001005165.2
p.F227L
c.681T>G
1 paper
NM_001005165.2
p.R228fs
c.682_683fs
5 papers
NM_001005165.2
p.R228H
c.683G>A
1 paper
NM_001005165.2
p.R235*
c.703C>T
1 paper
NM_001005165.2
p.P160Q
c.479C>A
1 paper
NM_001005165.2
p.M249fs
c.745_746fs
2 papers
NM_001005165.2
p.F257L
c.769T>C
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