Varaico: Literature-Extracted Genetic Variants

Gene:OR4C46
Variant:p.L228*

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
1 paper
NM_001004703.1
p.L228*
c.683T>A
Surrounding Variants
1 paper
NM_001004703.1
p.K233I
c.698A>T
1 paper
NM_001004703.1
p.A234T
c.700G>A
2 papers
NM_001004703.1
p.L235H
c.704T>A
1 paper
NM_001004703.1
p.C238R
c.712T>C
9 papers
NM_001004703.1
p.S240F
c.719C>T
1 paper
NM_001004703.1
p.V214F
c.640G>T
1 paper
NM_001004703.1
p.L213P
c.638T>C
6 papers
NM_001004703.1
p.L211F
c.631C>T
1 paper
NM_001004703.1
p.C205F
c.614G>T
9 papers
NM_001004703.1
p.C252Y
c.755G>A
3 papers
NM_001004703.1
p.G202R
c.604G>C
3 papers
NM_001004703.1
p.G202R
c.604G>A
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