Varaico: Literature-Extracted Genetic Variants

Gene:CA1
Variant:p.T56A

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
1 paper
NM_001128831.4
p.T56A
c.166A>G
Surrounding Variants
1 paper
NM_001128831.4
p.A55A
c.165C>A
1 paper
NM_001128831.4
p.P54L
c.161C>T
1 paper
NM_001128831.4
p.N53N
c.159C>T
2 papers
NM_001128831.4
p.N53K
c.159C>A
1 paper
NM_001128831.4
p.V63E
c.188T>A
1 paper
NM_001128831.4
p.G64R
c.190G>A
1 paper
NM_001128831.4
p.I48V
c.142A>G
1 paper
NM_001128831.4
p.I48L
c.142A>C
1 paper
NM_001128831.4
p.K46I
c.137A>T
2 papers
NM_001128831.4
p.F67I
c.199T>A
2 papers
NM_001128831.4
p.H68Y
c.202C>T
2 papers
NM_001128831.4
p.D42E
c.126C>A
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