Varaico: Literature-Extracted Genetic Variants

Gene:CA10
Variant:p.N293I

CA10

44 papers

RefSeq Summary

This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein...

Pfam Domains

Carb_anhydraseaa 46–301UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 10

HGNC Alias Symbols

CARPX; CA-RPX; HUCEP-15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020178.5
p.N293I
c.878A>T
Surrounding Variants
1 paper
NM_020178.5
p.R295H
c.884G>A
1 paper
NM_020178.5
p.I301F
c.901A>T
1 paper
NM_020178.5
p.N302D
c.904A>G
1 paper
NM_020178.5
p.P311S
c.931C>T
1 paper
NM_020178.5
p.L269L
c.807G>T
1 paper
NM_020178.5
p.L269L
c.805C>T
1 paper
NM_020178.5
p.R268C
c.802C>T
1 paper
NM_020178.5
p.V322G
c.965T>G
1 paper
NM_020178.5
p.N323S
c.968A>G
1 paper
NM_020178.5
p.E324Q
c.970G>C
1 paper
NM_020178.5
p.G237W
c.709G>T
2 papers
NM_020178.5
p.Y235Y
c.705C>T
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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."