Varaico: Literature-Extracted Genetic Variants

Gene:CA9
Variant:p.Q326R

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
Selected Variant
4 papers
NM_001216.3
p.Q326R
c.977A>G
Surrounding Variants
1 paper
NM_001216.3
p.P334S
c.1000C>T
1 paper
NM_001216.3
p.P334L
c.1001C>T
1 paper
NM_001216.3
p.Q355K
c.1063C>A
2 papers
NM_001216.3
p.L356F
c.1066C>T
1 paper
NM_001216.3
p.D395Y
c.1183G>T
1 paper
NM_001216.3
p.E302K
c.904G>A
1 paper
NM_001216.3
p.E298D
c.894A>C
1 paper
NM_001216.3
p.E298D
c.894A>T
1 paper
NM_001216.3
p.R295C
c.883C>T
1 paper
NM_001216.3
p.P283P
c.849G>A
1 paper
NM_001216.3
p.G421_L423delFs
c.1261_1267del7
1 paper
NM_001216.3
p.G421fs
c.1261_1262fs
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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."