Varaico: Literature-Extracted Genetic Variants

Gene:CA4
Variant:p.V90Splc

CA4

102 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 37–285UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 4

HGNC Previous Symbol

RP17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000717.5
p.V90Splc
c.268+78A>T
Surrounding Variants
1 paper
NM_000717.5
p.V90Splc
c.268+1G>C
1 paper
NM_000717.5
p.N85T
c.254A>C
1 paper
NM_000717.5
p.W81*
c.243G>A
1 paper
NM_000717.5
p.W81C
c.243G>C
1 paper
NM_000717.5
p.W81*
c.242G>A
1 paper
NM_000717.5
p.S73S
c.219T>A
7 papers
NM_000717.5
p.R69H
c.206G>A
2 papers
NM_000717.5
p.L67fs
c.199_200fs
2 papers
NM_000717.5
p.K66_L67Fs
c.198_199delinsGFs
1 paper
NM_000717.5
p.V63E
c.188T>A
1 paper
NM_000717.5
p.N55K
c.165C>A
1 paper
NM_000717.5
p.N55K
c.165C>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."