Varaico: Literature-Extracted Genetic Variants

Gene:OAS2
Variant:p.E226D

OAS2

89 papers

RefSeq Summary

This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine...

Pfam Domains

OAS1_Caa 153–338UCSC2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus
NTP_transf_2aa 373–474UCSCNucleotidyltransferase domain
OAS1_Caa 496–685UCSC2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus

Gene Aliases

HGNC Name

2'-5'-oligoadenylate synthetase 2

HGNC Previous Names

2'-5'-oligoadenylate synthetase 2 (69-71 kD); 2'-5'-oligoadenylate synthetase 2, 69/71kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002535.3
p.E226D
c.678G>T
Surrounding Variants
1 paper
NM_002535.3
p.E226D
c.678G>C
1 paper
NM_002535.3
p.T229A
c.685A>G
2 papers
NM_002535.3
p.T229M
c.686C>T
1 paper
NM_002535.3
p.L220P
c.659T>C
1 paper
NM_002535.3
p.E234*
c.700G>T
1 paper
NM_002535.3
p.S219T
c.655T>A
1 paper
NM_002535.3
p.Q235*
c.703C>T
1 paper
NM_002535.3
p.K213*
c.637A>T
1 paper
NM_002535.3
p.I244I
c.732T>C
1 paper
NM_002535.3
p.V248V
c.744C>T
1 paper
NM_002535.3
p.L252V
c.754C>G
3 papers
NM_002535.3
p.Q258L
c.773A>T
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