Varaico: Literature-Extracted Genetic Variants

Gene:CA1
Variant:p.M1_W6del0

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.M1_W6del0
c.1_18del18
Surrounding Variants
1 paper
NM_001128831.4
p.D5insFs
c.14dupA
1 paper
NM_001128831.4
p.D9A
c.26A>C
1 paper
NM_001128831.4
p.S3S
c.9T>C
1 paper
NM_001128831.4
p.D10A
c.29A>C
1 paper
NM_001128831.4
p.S3insFs
c.7dupA
1 paper
NM_001128831.4
p.A2A
c.6A>T
1 paper
NM_001128831.4
p.K11T
c.32A>C
1 paper
NM_001128831.4
p.M1insFs
c.1dupA
2 papers
NM_001128831.4
p.M1T
c.2T>C
1 paper
NM_001128831.4
p.G13Splc
c.38-2A>G
1 paper
NM_001128831.4
p.G13D
c.38G>A
1 paper
NM_001128831.4
p.E15A
c.44A>C
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