Varaico: Literature-Extracted Genetic Variants

Gene:CA1
Variant:p.N25T

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.N25T
c.74A>C
Surrounding Variants
1 paper
NM_001128831.4
p.G26R
c.76G>C
1 paper
NM_001128831.4
p.G26R
c.76G>A
1 paper
NM_001128831.4
p.G26E
c.77G>A
1 paper
NM_001128831.4
p.A24T
c.70G>A
1 paper
NM_001128831.4
p.P22S
c.64C>T
1 paper
NM_001128831.4
p.S30F
c.89C>T
1 paper
NM_001128831.4
p.P31S
c.91C>T
1 paper
NM_001128831.4
p.S18I
c.53G>T
1 paper
NM_001128831.4
p.W17C
c.51G>T
1 paper
NM_001128831.4
p.D33G
c.98A>G
1 paper
NM_001128831.4
p.K35R
c.104A>G
1 paper
NM_001128831.4
p.E15A
c.44A>C
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