Varaico: Literature-Extracted Genetic Variants

Gene:CA8
Variant:p.Y218C

CA8

84 papers

RefSeq Summary

The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activ...

Pfam Domains

Carb_anhydraseaa 32–289UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 8

HGNC Previous Symbol

CALS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004056.6
p.Y218C
c.653A>G
Surrounding Variants
1 paper
NM_004056.6
p.T223I
c.668C>T
1 paper
NM_004056.6
p.L211L
c.631C>T
6 papers
NM_004056.6
p.R237Q
c.710G>A
1 paper
NM_004056.6
p.Q244R
c.731A>G
1 paper
NM_004056.6
p.Q171H
c.513G>T
1 paper
NM_004056.6
p.Q171H
c.513G>C
1 paper
NM_004056.6
p.G162A
c.485G>C
7 papers
NM_004056.6
p.G162R
c.484G>C
8 papers
NM_004056.6
p.G162R
c.484G>A
1 paper
NM_004056.6
p.P160L
c.479C>T
1 paper
NM_004056.6
p.I143V
c.427A>G
1 paper
NM_004056.6
p.E139_L140Splc
c.418-3C>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."