Varaico: Literature-Extracted Genetic Variants

Gene:CA1
Variant:p.A143V

CA1

236 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 12–261UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 1

HGNC Alias Symbol

Car1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001128831.4
p.A143V
c.428C>T
Surrounding Variants
1 paper
NM_001128831.4
p.G141R
c.421G>C
1 paper
NM_001128831.4
p.G141S
c.421G>A
1 paper
NM_001128831.4
p.A139P
c.415G>C
1 paper
NM_001128831.4
p.L148V
c.442T>G
1 paper
NM_001128831.4
p.K138N
c.414G>C
1 paper
NM_001128831.4
p.L148insFs
c.443_444insT
1 paper
NM_001128831.4
p.L148fs
c.442_443fs
1 paper
NM_001128831.4
p.S137S
c.411A>T
1 paper
NM_001128831.4
p.S137*
c.410C>G
1 paper
NM_001128831.4
p.A136A
c.408C>G
1 paper
NM_001128831.4
p.K150N
c.450G>T
1 paper
NM_001128831.4
p.K150N
c.450G>C
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