Varaico: Literature-Extracted Genetic Variants

Gene:CA3
Variant:p.E117D

CA3

155 papers

RefSeq Summary

Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzym...

Pfam Domains

Carb_anhydraseaa 11–259UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 3

HGNC Alias Symbols

Car3; CAIII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005181.4
p.E117D
c.351G>C
Surrounding Variants
1 paper
NM_005181.4
p.E117D
c.351G>T
1 paper
NM_005181.4
p.A115A
c.345A>G
1 paper
NM_005181.4
p.V109L
c.325G>C
1 paper
NM_005181.4
p.V109L
c.325G>T
1 paper
NM_005181.4
p.H107Y
c.319C>T
1 paper
NM_005181.4
p.S105F
c.314C>T
1 paper
NM_005181.4
p.G104D
c.311G>A
1 paper
NM_005181.4
p.D101N
c.301G>A
2 papers
NM_005181.4
p.S100L
c.299C>T
1 paper
NM_005181.4
p.H96Q
c.288C>A
1 paper
NM_005181.4
p.H96Q
c.288C>G
1 paper
NM_005181.4
p.H96R
c.287A>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."