Varaico: Literature-Extracted Genetic Variants

Gene:CA2
Variant:p.D34_H36ins1

CA2

406 papers

RefSeq Summary

The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and ...

Pfam Domains

Carb_anhydraseaa 11–259UCSCEukaryotic-type carbonic anhydrase

Gene Aliases

HGNC Name

carbonic anhydrase 2

HGNC Alias Symbols

Car2; CA-II; CAII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000067.3
p.D34_H36ins1
c.102_107dup6
Surrounding Variants
1 paper
NM_000067.3
p.D34A
c.101A>C
1 paper
NM_000067.3
p.D34E
c.102C>A
1 paper
NM_000067.3
p.D34E
c.102C>G
1 paper
NM_000067.3
p.I33S
c.98T>G
3 papers
NM_000067.3
p.I33delFs
c.99delC
1 paper
NM_000067.3
p.T35insFs
c.104_105insA
1 paper
NM_000067.3
p.D32G
c.95A>G
1 paper
NM_000067.3
p.H36insFs
c.107_108insT
1 paper
NM_000067.3
p.H36R
c.107A>G
1 paper
NM_000067.3
p.T37R
c.110C>G
2 papers
NM_000067.3
p.S29C
c.86C>G
1 paper
NM_000067.3
p.A38A
c.114C>G
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