Varaico: Literature-Extracted Genetic Variants

Gene:CA9
Variant:p.F259Y

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.F259Y
c.776T>A
Surrounding Variants
1 paper
NM_001216.3
p.A260V
c.779C>T
1 paper
NM_001216.3
p.V262A
c.785T>C
1 paper
NM_001216.3
p.V262G
c.785T>G
1 paper
NM_001216.3
p.L266V
c.796T>G
1 paper
NM_001216.3
p.H251Y
c.751C>T
1 paper
NM_001216.3
p.E249_I250Splc
c.748-6T>C
1 paper
NM_001216.3
p.A276T
c.826G>A
1 paper
NM_001216.3
p.A277P
c.829G>C
1 paper
NM_001216.3
p.E280K
c.838G>A
1 paper
NM_001216.3
p.E238G
c.713A>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."