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

1 paper

NM_080863.5

p.A135A

c.405T>G

Surrounding Variants

1 paper

NM_080863.5

p.R144R

c.432C>T

1 paper

NM_080863.5

p.C126S

c.377G>C

1 paper

NM_080863.5

p.C126S

c.376T>A

2 papers

NM_080863.5

p.R153*

c.457C>T

1 paper

NM_080863.5

p.R160W

c.478C>T

1 paper

NM_080863.5

p.Q111*

c.331C>T

1 paper

NM_080863.5

p.T173P

c.517A>C

1 paper

NM_080863.5

p.E187*

c.559G>T

1 paper

NM_080863.5

p.Q190Splc

c.569+53C>T

1 paper

NM_080863.5

p.A83T

c.247G>A

1 paper

NM_080863.5

p.Q78H

c.234A>C

2 papers

NM_080863.5

p.Q78H

c.234A>T