Varaico: Literature-Extracted Genetic Variants

Gene:CA5A
Variant:p.K185K

CA5A

64 papers

RefSeq Summary

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

Pfam Domains

Carb_anhydraseaa 45–296UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 5A

HGNC Previous Symbol

CA5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_001739.2
p.K185K
c.555G>A
Surrounding Variants
1 paper
NM_001739.2
p.L177_A178delFs
c.531_532delCC
1 paper
NM_001739.2
p.L177fs
c.529_530fs
2 papers
NM_001739.2
p.W159R
c.475T>C
2 papers
NM_001739.2
p.W159R
c.475T>A
1 paper
NM_001739.2
p.H158P
c.473A>C
1 paper
NM_001739.2
p.V157I
c.469G>A
1 paper
NM_001739.2
p.L156F
c.468A>T
1 paper
NM_001739.2
p.L156F
c.468A>C
1 paper
NM_001739.2
p.L193P
c.578T>C
1 paper
NM_001739.2
p.Q194*
c.580C>T
2 papers
NM_001739.2
p.Q194insFs
c.580_581insC
1 paper
NM_001739.2
p.V197G
c.590T>G
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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."