Varaico: Literature-Extracted Genetic Variants

Gene:OR4C46
Variant:p.K288R

OR4C46

57 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 29–303UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 4 subfamily C member 46

HGNC Previous Name

olfactory receptor, family 4, subfamily C, member 46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001004703.1
p.K288R
c.863A>G
Surrounding Variants
1 paper
NM_001004703.1
p.L283insFs
c.847_848insC
1 paper
NM_001004703.1
p.L283fs
c.847_848fs
1 paper
NM_001004703.1
p.N294K
c.882T>G
1 paper
NM_001004703.1
p.N294K
c.882T>A
1 paper
NM_001004703.1
p.A295fs
c.883_884fs
1 paper
NM_001004703.1
p.A295insFs
c.883dupG
4 papers
NM_001004703.1
p.D304N
c.910G>A
1 paper
NM_001004703.1
p.I271I
c.813A>T
2 papers
NM_001004703.1
p.Y256H
c.766T>C
9 papers
NM_001004703.1
p.C252Y
c.755G>A
9 papers
NM_001004703.1
p.S240F
c.719C>T
1 paper
NM_001004703.1
p.C238R
c.712T>C
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