Varaico: Literature-Extracted Genetic Variants

Gene:CA12
Variant:p.Y195*

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.Y195*
c.585C>G
Surrounding Variants
1 paper
NM_001218.5
p.Y195*
c.585C>A
1 paper
NM_001218.5
p.Y183C
c.548A>G
2 papers
NM_001218.5
p.P212L
c.635C>T
1 paper
NM_001218.5
p.E217G
c.650A>G
1 paper
NM_001218.5
p.A171G
c.512C>G
1 paper
NM_001218.5
p.N150T
c.449A>C
1 paper
NM_001218.5
p.T255P
c.763A>C
1 paper
NM_001218.5
p.R268K
c.803G>A
1 paper
NM_001218.5
p.D281N
c.841G>A
1 paper
NM_001218.5
p.T287insFs
c.859_860dupAC
1 paper
NM_001218.5
p.T287insFs
c.860dupC
1 paper
NM_001218.5
p.S288fs
c.862_863fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."