Varaico: Literature-Extracted Genetic Variants

Gene:CA9

CA9

123 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 136–390UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 9

HGNC Alias Symbol

CAIX

Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
7 papers
NM_001216.3
p.L83P
c.248T>C
6 papers
NM_001216.3
p.V33M
c.97G>A
4 papers
NM_001216.3
p.Q326R
c.977A>G
3 papers
NM_001216.3
p.C174S
c.520T>A
3 papers
NM_001216.3
p.C174S
c.521G>C
3 papers
NM_001216.3
p.F259Y
c.776T>A
2 papers
NM_001216.3
p.G79R
c.235G>A
2 papers
NM_001216.3
p.G79R
c.235G>C
2 papers
NM_001216.3
p.P84P
c.252T>C
2 papers
NM_001216.3
p.E92K
c.274G>A
2 papers
NM_001216.3
p.L356F
c.1066C>T
2 papers
NM_001216.3
p.L423R
c.1268T>G
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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."