Varaico: Literature-Extracted Genetic Variants

Gene:CA5A
Variant:p.R32*

CA5A

64 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 respirat...

Pfam Domains

Carb_anhydraseaa 45–296UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 5A

HGNC Previous Symbol

CA5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001739.2
p.R32*
c.94C>T
Surrounding Variants
1 paper
NM_001739.2
p.P30L
c.89C>T
1 paper
NM_001739.2
p.S27L
c.80C>T
1 paper
NM_001739.2
p.R37R
c.111T>G
1 paper
NM_001739.2
p.W24*
c.71G>A
3 papers
NM_001739.2
p.W41*
c.122G>A
2 papers
NM_001739.2
p.W41C
c.123G>T
1 paper
NM_001739.2
p.W41C
c.123G>C
5 papers
NM_001739.2
p.W41*
c.123G>A
1 paper
NM_001739.2
p.Q42K
c.124C>A
3 papers
NM_001739.2
p.W20*
c.60G>A
4 papers
NM_001739.2
p.W20*
c.59G>A
2 papers
NM_001739.2
p.N45K
c.135T>G
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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."