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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CA5A

Variant:p.R213C

CA5A

64 papers

RefSeq Summary

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respirat...

Pfam Domains

Carb_anhydraseaa 45–296UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 5A

HGNC Previous Symbol

CA5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr16:87891936 G>A

NM_001739.2

p.R213C

c.637C>T

Carb_anhydrase

Exome: 0.0% (AC=17, hom=0)Genome: n/a10 overlapping SVs

Surrounding Variants

1 paper

chr16:87891930 A>T

NM_001739.2

p.F215I

c.643T>A

Carb_anhydrase

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr16:87891892 G>C

NM_001739.2

p.Y227*

c.681C>G

Carb_anhydrase

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr16:87891892 G>T

NM_001739.2

p.Y227*

c.681C>A

Carb_anhydrase

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

3 papers

chr16:87891883 G>A

NM_001739.2

p.Y230Y

c.690C>T

Carb_anhydrase

Exome: 0.0% (AC=405, hom=1)Genome: 0.0% (AC=30, hom=0)10 overlapping SVs

5 papers

chr16:87891876 A>G

NM_001739.2

p.S233P

c.697T>C

Carb_anhydrase

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

2 papers

chr16:87891863 G>A

NM_001739.2

p.P237L

c.710C>T

Carb_anhydrase

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=7, hom=0)10 overlapping SVs

1 paper

chr16:87891852 C>A

NM_001739.2

p.E241*

c.721G>T

Carb_anhydrase

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

10 papers

chr16:87891852 C>T

NM_001739.2

p.E241K

c.721G>A

Carb_anhydrase

Exome: 0.0% (AC=260, hom=0)Genome: 0.0% (AC=11, hom=0)10 overlapping SVs

1 paper

chr16:87891828 T>A

NM_001739.2

p.K249*

c.745A>T

Carb_anhydrase

exact variant not in gnomAD10 overlapping SVs

1 paper

chr16:87891824 T>C

NM_001739.2

p.E250G

c.749A>G

Carb_anhydrase

Exome: 0.6% (AC=9071, hom=35)Genome: 0.4% (AC=631, hom=3)10 overlapping SVs

1 paper

chr16:87888260 G>A

NM_001739.2

p.R263C

c.787C>T

Carb_anhydrase

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=4, hom=0)9 overlapping SVs

2 papers

chr16:87888259 C>T

NM_001739.2

p.R263H

c.788G>A

Carb_anhydrase

Exome: 0.1% (AC=930, hom=15)Genome: 0.0% (AC=59, hom=0)9 overlapping SVs

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