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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CA12

Variant:p.K18E

CA12

39 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 respirati...

Pfam Domains

Carb_anhydraseaa 16–229UCSCEukaryotic-type carbonic anhydrase

Carb_anhydraseaa 38–289UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 12

HGNC Alias Symbol

HsT18816

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr15:63381669 T>C

NM_001218.5

p.K18E

c.52A>G

Carb_anhydrase

exact variant not in gnomAD15 overlapping SVs

Surrounding Variants

1 paper

chr15:63381669 T>G

NM_001218.5

p.K18Q

c.52A>C

Carb_anhydrase

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr15:63381699 C>T

NM_001218.5

p.A8T

c.22G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr15:63381637 G>A

NM_001218.5

p.N28N

c.84C>T

Carb_anhydrase

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."