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.R428Q

c.1283G>A

Surrounding Variants

2 papers

NM_080863.5

p.R428W

c.1282C>T

1 paper

NM_080863.5

p.S425I

c.1274G>T

1 paper

NM_080863.5

p.R416*

c.1246C>T

1 paper

NM_080863.5

p.H413Y

c.1237C>T

1 paper

NM_080863.5

p.Q412R

c.1235A>G

1 paper

NM_080863.5

p.C403S

c.1208G>C

1 paper

NM_080863.5

p.C403S

c.1207T>A

1 paper

NM_080863.5

p.P374A

c.1120C>G

1 paper

NM_080863.5

p.C359C

c.1077C>T

3 papers

NM_080863.5

p.S331A

c.991T>G

1 paper

NM_080863.5

p.R309S

c.925C>A

4 papers

NM_080863.5

p.N294S

c.881A>G