Varaico: Literature-Extracted Genetic Variants

Gene:CA11
Variant:p.Q238K

CA11

32 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 47–303UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 11

HGNC Alias Symbols

CARP2; CARPX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001217.5
p.Q238K
c.712C>A
Surrounding Variants
1 paper
NM_001217.5
p.G233D
c.698G>A
1 paper
NM_001217.5
p.E248K
c.742G>A
1 paper
NM_001217.5
p.W252*
c.756G>A
1 paper
NM_001217.5
p.I253N
c.758T>A
1 paper
NM_001217.5
p.R209C
c.625C>T
1 paper
NM_001217.5
p.N275K
c.825T>G
1 paper
NM_001217.5
p.N275K
c.825T>A
1 paper
NM_001217.5
p.R289Q
c.866G>A
1 paper
NM_001217.5
p.S145L
c.434C>T
1 paper
NM_001217.5
p.H326Y
c.976C>T
1 paper
NM_001217.5
p.E94G
c.281A>G
1 paper
NM_001217.5
p.P86fs
c.256_257fs
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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."