Varaico: Literature-Extracted Genetic Variants

Gene:CA9
Variant:p.C174S

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
3 papers
NM_001216.3
p.C174S
c.521G>C
Surrounding Variants
3 papers
NM_001216.3
p.C174S
c.520T>A
1 paper
NM_001216.3
p.A172V
c.515C>T
1 paper
NM_001216.3
p.P163L
c.488C>T
1 paper
NM_001216.3
p.S162delFs
c.486delC
1 paper
NM_001216.3
p.C156*
c.468C>A
1 paper
NM_001216.3
p.A155V
c.464C>T
1 paper
NM_001216.3
p.G199S
c.595G>A
1 paper
NM_001216.3
p.G199R
c.595G>C
1 paper
NM_001216.3
p.V202Splc
c.604+1G>C
1 paper
NM_001216.3
p.Y220C
c.659A>G
1 paper
NM_001216.3
p.Q224H
c.672G>C
1 paper
NM_001216.3
p.Q224H
c.672G>T
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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."