Varaico: Literature-Extracted Genetic Variants

Gene:CA5B
Variant:p.Y41fs

CA5B

19 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 48–296UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 5B

HGNC Previous Name

carbonic anhydrase VB, mitochondrial

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007220.4
p.Y41fs
c.121_122fs
Surrounding Variants
1 paper
NM_007220.4
p.T40_Y41delFs
c.120_121delTT
2 papers
NM_007220.4
p.N45K
c.135C>A
2 papers
NM_007220.4
p.N45K
c.135C>G
1 paper
NM_007220.4
p.P33L
c.98C>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."