Varaico: Literature-Extracted Genetic Variants

Gene:CA4
Variant:p.D230E

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.D230E
c.690T>G
Surrounding Variants
1 paper
NM_000717.5
p.P227L
c.680C>T
4 papers
NM_000717.5
p.V234I
c.700G>A
1 paper
NM_000717.5
p.P227S
c.679C>T
1 paper
NM_000717.5
p.R239Q
c.716G>A
1 paper
NM_000717.5
p.Y220C
c.659A>G
9 papers
NM_000717.5
p.R219S
c.655C>A
1 paper
NM_000717.5
p.E211V
c.632A>T
1 paper
NM_000717.5
p.E211K
c.631G>A
1 paper
NM_000717.5
p.E211Q
c.631G>C
1 paper
NM_000717.5
p.P209S
c.625C>T
1 paper
NM_000717.5
p.L208L
c.624C>T
1 paper
NM_000717.5
p.Q248_I249Splc
c.744+18C>T
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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."