Varaico: Literature-Extracted Genetic Variants

Gene:CA1
Variant:p.R255*

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
7 papers
NM_001128831.4
p.R255*
c.763A>T
Surrounding Variants
1 paper
NM_001128831.4
p.G254R
c.760G>C
1 paper
NM_001128831.4
p.R247H
c.740G>A
1 paper
NM_001128831.4
p.P241L
c.722C>T
1 paper
NM_001128831.4
p.V240D
c.719T>A
1 paper
NM_001128831.4
p.R228H
c.683G>A
1 paper
NM_001128831.4
p.F227F
c.681C>T
1 paper
NM_001128831.4
p.F227L
c.681C>G
1 paper
NM_001128831.4
p.F227L
c.681C>A
1 paper
NM_001128831.4
p.F227C
c.680T>G
1 paper
NM_001128831.4
p.F227Y
c.680T>A
1 paper
NM_001128831.4
p.F227L
c.679T>C
1 paper
NM_001128831.4
p.Q223R
c.668A>G
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."