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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CA3

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 67 variants

5 papers

chr8:85439768 G>A

NM_005181.4

p.V31I

c.91G>A

Carb_anhydrase

Exome: 57.7% (AC=843501, hom=247782)Genome: 51.7% (AC=78664, hom=21785)30 overlapping SVs

2 papers

chr8:85439810 C>A

NM_005181.4

p.Q45K

c.133C>A

Carb_anhydrase

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=1, hom=0)30 overlapping SVs

2 papers

chr8:85442139 C>T

NM_005181.4

p.S100L

c.299C>T

Carb_anhydrase

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=7, hom=0)30 overlapping SVs

2 papers

chr8:85446185 T>G

NM_005181.4

p.F184C

c.551T>G

Carb_anhydrase

exact variant not in gnomAD30 overlapping SVs

2 papers

chr8:85446230 C>T

NM_005181.4

p.T199M

c.596C>T

Carb_anhydrase

Exome: 0.0% (AC=95, hom=0)Genome: 0.0% (AC=11, hom=0)30 overlapping SVs

2 papers

chr8:85448077 C>A

NM_005181.4

p.P236H

c.707C>A

Carb_anhydrase

exact variant not in gnomAD30 overlapping SVs

2 papers

chr8:85448079 C>T

NM_005181.4

p.P237S

c.709C>T

Carb_anhydrase

Exome: n/aGenome: 0.0% (AC=1, hom=0)30 overlapping SVs

1 paper

chr8:85438933 C>T

NM_005181.4

p.A8A

c.24C>T

exact variant not in gnomAD30 overlapping SVs

1 paper

chr8:85438941 A>C

NM_005181.4

p.N11T

c.32A>C

Carb_anhydrase

exact variant not in gnomAD30 overlapping SVs

1 paper

chr8:85439714 C>A

NM_005181.4

p.P13T

c.37C>A

Carb_anhydrase

exact variant not in gnomAD30 overlapping SVs

1 paper

chr8:85439717 G>C

NM_005181.4

p.D14H

c.40G>C

Carb_anhydrase

exact variant not in gnomAD30 overlapping SVs

1 paper

chr8:85439719 C>G

NM_005181.4

p.D14E

c.42C>G

Carb_anhydrase

exact variant not in gnomAD30 overlapping SVs

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