Varaico: Literature-Extracted Genetic Variants

Gene:CA4
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_000717.5
p.R2W
c.4C>T
2 papers
NM_000717.5
p.L8L
c.24G>C
2 papers
NM_000717.5
p.A12T
c.34G>A
21 papers
NM_000717.5
p.R14W
c.40C>T
1 paper
NM_000717.5
p.E20Splc
c.58+848T>G
1 paper
NM_000717.5
p.E20G
c.59A>G
1 paper
NM_000717.5
p.W23C
c.69G>C
1 paper
NM_000717.5
p.Q28*
c.82C>T
1 paper
NM_000717.5
p.Q28H
c.84A>C
1 paper
NM_000717.5
p.Q28H
c.84A>T
1 paper
NM_000717.5
p.C46insFs
c.137dupG
1 paper
NM_000717.5
p.P53R
c.158C>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."