Varaico: Literature-Extracted Genetic Variants

Gene:CA12
Variant:p.A354V

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001218.5
p.A354V
c.1061C>T
Surrounding Variants
1 paper
NM_001218.5
p.I318N
c.953T>A
3 papers
NM_001218.5
p.G303Splc
c.908-1G>A
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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."