Varaico: Literature-Extracted Genetic Variants

Gene:CA8
Variant:p.M1delFs

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.M1delFs
c.2delA
Surrounding Variants
1 paper
NM_004056.6
p.G30S
c.88G>A
1 paper
NM_004056.6
p.G34Splc
c.100+1G>A
1 paper
NM_004056.6
p.G34G
c.102T>A
1 paper
NM_004056.6
p.D43A
c.128A>C
1 paper
NM_004056.6
p.R57S
c.171A>T
1 paper
NM_004056.6
p.V68V
c.204C>A
2 papers
NM_004056.6
p.R78*
c.232C>T
1 paper
NM_004056.6
p.N84S
c.251A>G
1 paper
NM_004056.6
p.K96R
c.287A>G
1 paper
NM_004056.6
p.S97L
c.290C>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."