Varaico: Literature-Extracted Genetic Variants

Gene:CA4
Variant:p.E171_A172Splc

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.E171_A172Splc
c.514-79C>T
Surrounding Variants
1 paper
NM_000717.5
p.G173G
c.519A>C
1 paper
NM_000717.5
p.T174I
c.521C>T
4 papers
NM_000717.5
p.N177K
c.531C>A
2 papers
NM_000717.5
p.N177K
c.531C>G
1 paper
NM_000717.5
p.E194Splc
c.580+19G>A
1 paper
NM_000717.5
p.L169V
c.505C>G
1 paper
NM_000717.5
p.L166V
c.496C>G
1 paper
NM_000717.5
p.A164A
c.492G>A
1 paper
NM_000717.5
p.A156V
c.467C>T
1 paper
NM_000717.5
p.V153A
c.458T>C
1 paper
NM_000717.5
p.K145K
c.435A>G
1 paper
NM_000717.5
p.M139L
c.415A>C
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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."