Varaico: Literature-Extracted Genetic Variants

ASB16

44 papers

RefSeq Summary

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to ...

Pfam Domains

Ank_2aa 48–171UCSCAnkyrin repeats (3 copies)

Ank_2aa 115–206UCSCAnkyrin repeats (3 copies)

Ankaa 209–241UCSCAnkyrin repeat

Ankaa 283–314UCSCAnkyrin repeat

SOCS_boxaa 407–445UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 16

HGNC Alias Symbol

FLJ30165

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_080863.5

p.S331A

c.991T>G

Surrounding Variants

1 paper

NM_080863.5

p.R309S

c.925C>A

4 papers

NM_080863.5

p.N294S

c.881A>G

1 paper

NM_080863.5

p.T286M

c.857C>T

1 paper

NM_080863.5

p.A265P

c.793G>C

3 papers

NM_080863.5

p.T249A

c.745A>G

1 paper

NM_080863.5

p.A234T

c.700G>A

5 papers

NM_080863.5

p.E223G

c.668A>G

1 paper

NM_080863.5

p.A217T

c.649G>A

1 paper

NM_080863.5

p.C359C

c.1077C>T

1 paper

NM_080863.5

p.P374A

c.1120C>G

1 paper

NM_080863.5

p.C403S

c.1207T>A

1 paper

NM_080863.5

p.C403S

c.1208G>C