Varaico: Literature-Extracted Genetic Variants

Gene:CA9
Variant:p.G79R

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
2 papers
NM_001216.3
p.G79R
c.235G>C
Surrounding Variants
2 papers
NM_001216.3
p.G79R
c.235G>A
7 papers
NM_001216.3
p.L83P
c.248T>C
2 papers
NM_001216.3
p.P84P
c.252T>C
1 paper
NM_001216.3
p.S71delFs
c.213delA
1 paper
NM_001216.3
p.D88Y
c.262G>T
1 paper
NM_001216.3
p.P90S
c.268C>T
1 paper
NM_001216.3
p.G91R
c.271G>A
1 paper
NM_001216.3
p.G91R
c.271G>C
2 papers
NM_001216.3
p.E92K
c.274G>A
1 paper
NM_001216.3
p.L95Q
c.284T>A
1 paper
NM_001216.3
p.G61G
c.183C>G
1 paper
NM_001216.3
p.G61V
c.182G>T
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