Varaico: Literature-Extracted Genetic Variants

Gene:OR5H1
Variant:p.M40L

OR5H1

41 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 31–308UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 5 subfamily H member 1

HGNC Alias Symbols

HTPCRX14; HSHTPCRX14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005338.2
p.M40L
c.118A>T
Surrounding Variants
1 paper
NM_001005338.2
p.M40L
c.118A>C
1 paper
NM_001005338.2
p.M40I
c.120G>A
1 paper
NM_001005338.2
p.M40I
c.120G>C
1 paper
NM_001005338.2
p.M40I
c.120G>T
1 paper
NM_001005338.2
p.W50R
c.148T>A
1 paper
NM_001005338.2
p.W50R
c.148T>C
1 paper
NM_001005338.2
p.W23L
c.68G>T
1 paper
NM_001005338.2
p.Y60N
c.178T>A
3 papers
NM_001005338.2
p.F17L
c.51T>A
3 papers
NM_001005338.2
p.F17L
c.51T>G
3 papers
NM_001005338.2
p.F17L
c.49T>C
1 paper
NM_001005338.2
p.D70E
c.210T>A
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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."