Varaico: Literature-Extracted Genetic Variants

Gene:OR52E6
Variant:p.F48L

OR52E6

31 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 6

HGNC Previous Name

olfactory receptor, family 52, subfamily E, member 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001005167.2
p.F48L
c.144C>G
Surrounding Variants
2 papers
NM_001005167.2
p.F48L
c.144C>A
2 papers
NM_001005167.2
p.F48L
c.142T>C
1 paper
NM_001005167.2
p.E54V
c.161A>T
3 papers
NM_001005167.2
p.I39V
c.115A>G
1 paper
NM_001005167.2
p.F34fs
c.100_101fs
1 paper
NM_001005167.2
p.F34delFs
c.101delA
2 papers
NM_001005167.2
p.C64F
c.191G>T
2 papers
NM_001005167.2
p.I80F
c.238A>T
1 paper
NM_001005167.2
p.E93K
c.277G>A
3 papers
NM_001005167.2
p.S95P
c.283T>C
1 paper
NM_001005167.2
p.G97V
c.290G>T
1 paper
NM_001005167.2
p.L100V
c.298C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."