Varaico: Literature-Extracted Genetic Variants

Gene:CA14
Variant:p.S215L

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.S215L
c.644C>T
Surrounding Variants
1 paper
NM_012113.3
p.S215W
c.644C>G
1 paper
NM_012113.3
p.L216I
c.646C>A
1 paper
NM_012113.3
p.G214S
c.640G>A
1 paper
NM_012113.3
p.R211H
c.632G>A
1 paper
NM_012113.3
p.P203T
c.607C>A
1 paper
NM_012113.3
p.I236T
c.707T>C
1 paper
NM_012113.3
p.V193M
c.577G>A
1 paper
NM_012113.3
p.E239delFs
c.715delG
1 paper
NM_012113.3
p.E239*
c.715G>T
1 paper
NM_012113.3
p.T191I
c.572C>T
1 paper
NM_012113.3
p.V260A
c.779T>C
1 paper
NM_012113.3
p.L269R
c.806T>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."