Varaico: Literature-Extracted Genetic Variants

Gene:OR2H1
Variant:p.Q78R

OR2H1

29 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 29–306UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 2 subfamily H member 1

HGNC Previous Symbols

OR2H6; OR2H8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030883.5
p.Q78R
c.233A>G
Surrounding Variants
1 paper
NM_030883.5
p.P77L
c.230C>T
1 paper
NM_030883.5
p.L80P
c.239T>C
1 paper
NM_030883.5
p.V76L
c.226G>C
1 paper
NM_030883.5
p.I90_S91delFs
c.270_271delCA
1 paper
NM_030883.5
p.S104F
c.311C>T
1 paper
NM_030883.5
p.A123_C125delFs
c.369_375del7
1 paper
NM_030883.5
p.H135P
c.404A>C
1 paper
NM_030883.5
p.R137fs
c.409_410fs
1 paper
NM_030883.5
p.P7S
c.19C>T
2 papers
NM_030883.5
p.M149I
c.447G>A
2 papers
NM_030883.5
p.M149I
c.447G>C
2 papers
NM_030883.5
p.M149I
c.447G>T
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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."