Varaico: Literature-Extracted Genetic Variants

Gene:CA9
Variant:p.L423R

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.L423R
c.1268T>G
Surrounding Variants
1 paper
NM_001216.3
p.G421fs
c.1261_1262fs
1 paper
NM_001216.3
p.G421_L423delFs
c.1261_1267del7
1 paper
NM_001216.3
p.A430V
c.1289C>T
1 paper
NM_001216.3
p.R440K
c.1319G>A
1 paper
NM_001216.3
p.T443A
c.1327A>G
1 paper
NM_001216.3
p.A459G
c.1376C>G
1 paper
NM_001216.3
p.D395Y
c.1183G>T
2 papers
NM_001216.3
p.L356F
c.1066C>T
1 paper
NM_001216.3
p.Q355K
c.1063C>A
1 paper
NM_001216.3
p.P334L
c.1001C>T
1 paper
NM_001216.3
p.P334S
c.1000C>T
4 papers
NM_001216.3
p.Q326R
c.977A>G
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