Varaico: Literature-Extracted Genetic Variants

Gene:CA8
Variant:p.E109D

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.E109D
c.327A>C
Surrounding Variants
1 paper
NM_004056.6
p.E109D
c.327A>T
1 paper
NM_004056.6
p.E109E
c.327A>G
1 paper
NM_004056.6
p.P105S
c.313C>T
3 papers
NM_004056.6
p.S100L
c.299C>T
2 papers
NM_004056.6
p.S100A
c.298T>G
12 papers
NM_004056.6
p.S100P
c.298T>C
1 paper
NM_004056.6
p.N123del1
c.367_369delGTT
1 paper
NM_004056.6
p.R125C
c.373C>T
1 paper
NM_004056.6
p.E139_L140Splc
c.417+1G>C
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."