Varaico: Literature-Extracted Genetic Variants

OAS3

129 papers

RefSeq Summary

This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate ...

Pfam Domains

OAS1_Caa 160–344UCSC2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus

OAS1_Caa 559–745UCSC2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus

NTP_transf_2aa 780–872UCSCNucleotidyltransferase domain

OAS1_Caa 903–1086UCSC2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus

Gene Aliases

HGNC Name

2'-5'-oligoadenylate synthetase 3

HGNC Previous Names

2'-5'-oligoadenylate synthetase 3 (100 kD); 2'-5'-oligoadenylate synthetase 3, 100kDa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006187.4

p.A95delFs

c.284delC

Surrounding Variants

1 paper

NM_006187.4

p.R94H

c.281G>A

1 paper

NM_006187.4

p.A92T

c.274G>A

1 paper

NM_006187.4

p.L98P

c.293T>C

1 paper

NM_006187.4

p.Q90R

c.269A>G

1 paper

NM_006187.4

p.R102Q

c.305G>A

1 paper

NM_006187.4

p.E106*

c.316G>T

1 paper

NM_006187.4

p.D82N

c.244G>A

3 papers

NM_006187.4

p.W109*

c.326G>A

2 papers

NM_006187.4

p.W109*

c.327G>A

1 paper

NM_006187.4

p.R117*

c.349A>T

1 paper

NM_006187.4

p.G66D

c.197G>A

4 papers

NM_006187.4

p.R65W

c.193C>T