Varaico: Literature-Extracted Genetic Variants

Gene:CA7
Variant:p.V209G

CA7

21 papers

RefSeq Summary

Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, ca...

Pfam Domains

Carb_anhydraseaa 13–262UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 7

HGNC Previous Name

carbonic anhydrase VII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005182.3
p.V209G
c.626T>G
Surrounding Variants
1 paper
NM_005182.3
p.P204L
c.611C>T
1 paper
NM_005182.3
p.E239E
c.717G>A
1 paper
NM_005182.3
p.V257M
c.769G>A
1 paper
NM_005182.3
p.R263W
c.787C>T
1 paper
NM_005182.3
p.L150insFs
c.449dupT
2 papers
NM_005182.3
p.L143L
c.427C>T
1 paper
NM_005182.3
p.A137V
c.410C>T
1 paper
NM_005182.3
p.A137S
c.409G>T
1 paper
NM_005182.3
p.E119_L120Splc
c.357+1G>C
1 paper
NM_005182.3
p.H96D
c.286C>G
1 paper
NM_005182.3
p.P89H
c.266C>A
1 paper
NM_005182.3
p.D77E
c.231C>A
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."