Varaico: Literature-Extracted Genetic Variants

Gene:OR52N4
Variant:p.Y130S

OR52N4

42 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 33–313UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 52 subfamily N member 4

HGNC Previous Names

olfactory receptor, family 52, subfamily N, member 4; olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene); olfactory receptor family 52 subfamily N member 4 (gene/pseudogene)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005175.5
p.Y130S
c.389A>C
Surrounding Variants
1 paper
NM_001005175.5
p.Y125C
c.374A>G
1 paper
NM_001005175.5
p.K145N
c.435G>C
1 paper
NM_001005175.5
p.K145N
c.435G>T
1 paper
NM_001005175.5
p.T108S
c.322A>T
1 paper
NM_001005175.5
p.T106N
c.317C>A
2 papers
NM_001005175.5
p.T106I
c.317C>T
1 paper
NM_001005175.5
p.L167insFs
c.499_500insG
1 paper
NM_001005175.5
p.L167fs
c.499_500fs
1 paper
NM_001005175.5
p.L167V
c.499C>G
2 papers
NM_001005175.5
p.L167R
c.500T>G
1 paper
NM_001005175.5
p.L168Q
c.503T>A
2 papers
NM_001005175.5
p.Y170S
c.509A>C
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