Varaico: Literature-Extracted Genetic Variants

Gene:OAS2
Variant:p.L542F

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.L542F
c.1626A>T
Surrounding Variants
1 paper
NM_002535.3
p.L542F
c.1626A>C
1 paper
NM_002535.3
p.D541_L542insFs
c.1623_1624insT
1 paper
NM_002535.3
p.K547N
c.1641G>C
1 paper
NM_002535.3
p.K547N
c.1641G>T
4 papers
NM_002535.3
p.R535Q
c.1604G>A
1 paper
NM_002535.3
p.Y550F
c.1649A>T
1 paper
NM_002535.3
p.R533C
c.1597C>T
2 papers
NM_002535.3
p.F524L
c.1572C>A
2 papers
NM_002535.3
p.F524L
c.1572C>G
2 papers
NM_002535.3
p.F524L
c.1570T>C
1 paper
NM_002535.3
p.P516Q
c.1547C>A
1 paper
NM_002535.3
p.V502I
c.1504G>A
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