Varaico: Literature-Extracted Genetic Variants

Gene:CA5B
Variant:p.S233P

CA5B

19 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 48–296UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 5B

HGNC Previous Name

carbonic anhydrase VB, mitochondrial

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007220.4
p.S233P
c.697T>C
Surrounding Variants
1 paper
NM_007220.4
p.T235I
c.704C>T
1 paper
NM_007220.4
p.T236S
c.707C>G
2 papers
NM_007220.4
p.P237L
c.710C>T
2 papers
NM_007220.4
p.E241K
c.721G>A
1 paper
NM_007220.4
p.P222A
c.664C>G
1 paper
NM_007220.4
p.T244N
c.731C>A
1 paper
NM_007220.4
p.D255E
c.765T>A
1 paper
NM_007220.4
p.D255E
c.765T>G
1 paper
NM_007220.4
p.K185K
c.555G>A
1 paper
NM_007220.4
p.A161T
c.481G>A
1 paper
NM_007220.4
p.V157L
c.469G>C
1 paper
NM_007220.4
p.V157L
c.469G>T
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