Varaico: Literature-Extracted Genetic Variants

Gene:CA1
Variant:p.D191delFs

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.D191delFs
c.573delA
Surrounding Variants
2 papers
NM_001128831.4
p.T194insFs
c.580_581insC
1 paper
NM_001128831.4
p.P196L
c.587C>T
1 paper
NM_001128831.4
p.S198P
c.592T>C
1 paper
NM_001128831.4
p.L185L
c.555C>T
1 paper
NM_001128831.4
p.T200A
c.598A>G
1 paper
NM_001128831.4
p.T200T
c.600T>C
1 paper
NM_001128831.4
p.P202R
c.605C>G
1 paper
NM_001128831.4
p.P203S
c.607C>T
1 paper
NM_001128831.4
p.L204P
c.611T>C
1 paper
NM_001128831.4
p.N179I
c.536A>T
1 paper
NM_001128831.4
p.G172C
c.514G>T
1 paper
NM_001128831.4
p.E215V
c.644A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."