Varaico: Literature-Extracted Genetic Variants

Gene:CA1
Variant:p.H68Y

CA1

236 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 12–261UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 1

HGNC Alias Symbol

Car1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001128831.4
p.H68Y
c.202C>T
Surrounding Variants
2 papers
NM_001128831.4
p.F67I
c.199T>A
2 papers
NM_001128831.4
p.E72K
c.214G>A
1 paper
NM_001128831.4
p.G64R
c.190G>A
1 paper
NM_001128831.4
p.V63E
c.188T>A
2 papers
NM_001128831.4
p.E72D
c.216G>T
2 papers
NM_001128831.4
p.E72D
c.216G>C
1 paper
NM_001128831.4
p.N74D
c.220A>G
1 paper
NM_001128831.4
p.D75E
c.225T>G
1 paper
NM_001128831.4
p.D75E
c.225T>A
1 paper
NM_001128831.4
p.V79Splc
c.235+1G>C
1 paper
NM_001128831.4
p.T56A
c.166A>G
1 paper
NM_001128831.4
p.A55A
c.165C>A
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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."