Varaico: Literature-Extracted Genetic Variants

Gene:CA12
Variant:p.E143G

CA12

39 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 16–229UCSCEukaryotic-type carbonic anhydrase
Carb_anhydraseaa 38–289UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 12

HGNC Alias Symbol

HsT18816

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001218.5
p.E143G
c.428A>G
Surrounding Variants
10 papers
NM_001218.5
p.E143K
c.427G>A
1 paper
NM_001218.5
p.Q138R
c.413A>G
3 papers
NM_001218.5
p.H121Q
c.363C>G
3 papers
NM_001218.5
p.H121Q
c.363C>A
1 paper
NM_001218.5
p.A115insFs
c.344_345insC
1 paper
NM_001218.5
p.S111C
c.332C>G
1 paper
NM_001218.5
p.D63Y
c.187G>T
1 paper
NM_001218.5
p.G36A
c.107G>C
1 paper
NM_001218.5
p.N150T
c.449A>C
1 paper
NM_001218.5
p.A171G
c.512C>G
1 paper
NM_001218.5
p.Y183C
c.548A>G
1 paper
NM_001218.5
p.Y195*
c.585C>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."