Varaico: Literature-Extracted Genetic Variants

Gene:CA11
Variant:p.L75V

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.L75V
c.223C>G
Surrounding Variants
1 paper
NM_001217.5
p.P86fs
c.256_257fs
1 paper
NM_001217.5
p.E94G
c.281A>G
1 paper
NM_001217.5
p.G48W
c.142G>T
1 paper
NM_001217.5
p.G48W
c.142G>T
1 paper
NM_001217.5
p.E32insFs
c.94_95insTA
1 paper
NM_001217.5
p.H24N
c.70C>A
1 paper
NM_001217.5
p.A23G
c.68C>G
1 paper
NM_001217.5
p.A5delFs
c.15delA
1 paper
NM_001217.5
p.S145L
c.434C>T
1 paper
NM_001217.5
p.R209C
c.625C>T
1 paper
NM_001217.5
p.G233D
c.698G>A
1 paper
NM_001217.5
p.Q238K
c.712C>A
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."