Varaico: Literature-Extracted Genetic Variants

Gene:CA14
Variant:p.L110L

CA14

37 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 28–278UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 14

HGNC Previous Name

carbonic anhydrase XIV

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012113.3
p.L110L
c.328C>T
Surrounding Variants
1 paper
NM_012113.3
p.H111Y
c.331C>T
1 paper
NM_012113.3
p.Q107R
c.320A>G
1 paper
NM_012113.3
p.Q87R
c.260A>G
1 paper
NM_012113.3
p.E133_L134Splc
c.400-16C>G
1 paper
NM_012113.3
p.S141S
c.423T>G
1 paper
NM_012113.3
p.S143S
c.429C>T
1 paper
NM_012113.3
p.Q155*
c.463C>T
1 paper
NM_012113.3
p.V159I
c.475G>A
1 paper
NM_012113.3
p.L160fs
c.478_479fs
1 paper
NM_012113.3
p.E165_V166Splc
c.495+40C>T
2 papers
NM_012113.3
p.A173V
c.518C>T
1 paper
NM_012113.3
p.D78N
c.232G>A
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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."