Varaico: Literature-Extracted Genetic Variants

OR52L1

38 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 49–328UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 52 subfamily L member 1

HGNC Previous Names

olfactory receptor, family 52, subfamily L, member 1; olfactory receptor family 52 subfamily L member 1 (gene/pseudogene)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 36 variants

4 papers

NM_001005173.3

p.S130L

c.389C>T

3 papers

NM_001005173.3

p.D88N

c.262G>A

3 papers

NM_001005173.3

p.R297W

c.889C>T

3 papers

NM_001005173.3

p.R297Q

c.890G>A

2 papers

NM_001005173.3

p.S11Y

c.32C>A

2 papers

NM_001005173.3

p.C115F

c.344G>T

2 papers

NM_001005173.3

p.R140C

c.418C>T

2 papers

NM_001005173.3

p.T183K

c.548C>A

1 paper

NM_001005173.3

p.F7insFs

c.20dupT

1 paper

NM_001005173.3

p.S19R

c.55A>C

1 paper

NM_001005173.3

p.S19R

c.57C>G

1 paper

NM_001005173.3

p.S19R

c.57C>A