Varaico: Literature-Extracted Genetic Variants

Gene:CA3
Variant:p.S100L

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
2 papers
NM_005181.4
p.S100L
c.299C>T
Surrounding Variants
1 paper
NM_005181.4
p.D101N
c.301G>A
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
1 paper
NM_005181.4
p.G104D
c.311G>A
1 paper
NM_005181.4
p.S105F
c.314C>T
1 paper
NM_005181.4
p.H94R
c.281A>G
1 paper
NM_005181.4
p.H107Y
c.319C>T
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.R91C
c.271C>T
1 paper
NM_005181.4
p.P85_G86del1
c.255_257delTGG
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