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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAS2R43

Variant:p.K169*

TAS2R43

91 papers

RefSeq Summary

TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pa...

Pfam Domains

TAS2Raa 1–298UCSCTaste receptor protein (TAS2R)

Gene Aliases

HGNC Name

taste 2 receptor member 43

HGNC Alias Symbol

T2R52

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:11091725 T>A

NM_176884.2

p.K169*

c.505A>T

TAS2R

exact variant not in gnomAD48 overlapping SVs

Surrounding Variants

1 paper

chr12:11091704 T>C

NM_176884.2

p.N176D

c.526A>G

TAS2R

Exome: 3.5% (AC=30905, hom=11815)Genome: 1.4% (AC=1121, hom=14)48 overlapping SVs

5 papers

chr12:11091757 A>T

NM_176884.2

p.F158Y

c.473T>A

TAS2R

Exome: 12.2% (AC=106469, hom=45684)Genome: 22.3% (AC=16202, hom=1993)48 overlapping SVs

1 paper

chr12:11091686 C>A

NM_176884.2

p.V182L

c.544G>T

TAS2R

exact variant not in gnomAD48 overlapping SVs

1 paper

chr12:11091686 C>G

NM_176884.2

p.V182L

c.544G>C

TAS2R

Exome: 2.5% (AC=22851, hom=8563)Genome: 0.7% (AC=586, hom=11)48 overlapping SVs

5 papers

chr12:11091770 G>A

NM_176884.2

p.R154W

c.460C>T

TAS2R

Exome: 25.7% (AC=169111, hom=61044)Genome: 33.8% (AC=24360, hom=3311)48 overlapping SVs

1 paper

chr12:11091771 C>T

NM_176884.2

p.V153V

c.459G>A

TAS2R

Exome: 26.5% (AC=174121, hom=61911)Genome: 34.6% (AC=24900, hom=3388)48 overlapping SVs

6 papers

chr12:11091779 C>G

NM_176884.2

p.E151Q

c.451G>C

TAS2R

Exome: 33.0% (AC=226851, hom=73613)Genome: 38.5% (AC=30007, hom=4375)48 overlapping SVs

2 papers

chr12:11091791 T>C

NM_176884.2

p.I147V

c.439A>G

TAS2R

Exome: 41.9% (AC=323405, hom=102699)Genome: 40.0% (AC=34277, hom=5259)48 overlapping SVs

2 papers

chr12:11091653 G>T

NM_176884.2

p.L193I

c.577C>A

TAS2R

Exome: 1.0% (AC=9521, hom=3405)Genome: 0.8% (AC=664, hom=4)48 overlapping SVs

2 papers

chr12:11091644 T>A

NM_176884.2

p.M196L

c.586A>T

TAS2R

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=0, hom=0)47 overlapping SVs

2 papers

chr12:11091644 T>G

NM_176884.2

p.M196L

c.586A>C

TAS2R

Exome: 0.6% (AC=5678, hom=1926)Genome: 1.9% (AC=1464, hom=1)47 overlapping SVs

1 paper

chr12:11091643 A>G

NM_176884.2

p.M196T

c.587T>C

TAS2R

Exome: 0.0% (AC=0, hom=0)Genome: n/a47 overlapping SVs

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