Varaico: Literature-Extracted Genetic Variants

ASB11

27 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 SOCS box domain. The SOCS box serves to co...

Pfam Domains

Ank_2aa 69–161UCSCAnkyrin repeats (3 copies)

Ank_2aa 159–226UCSCAnkyrin repeats (3 copies)

Ank_2aa 222–285UCSCAnkyrin repeats (3 copies)

SOCS_boxaa 283–321UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 11

HGNC Alias Symbol

DKFZp779E2460

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_080873.3

p.R208W

c.622A>T

Surrounding Variants

1 paper

NM_080873.3

p.G174Splc

c.521-924T>G

1 paper

NM_080873.3

p.W227*

c.680G>A

1 paper

NM_080873.3

p.W227*

c.681G>A

1 paper

NM_080873.3

p.A234T

c.700G>A

1 paper

NM_080873.3

p.D249N

c.745G>A

2 papers

NM_080873.3

p.S165L

c.494C>T

1 paper

NM_080873.3

p.G142D

c.425G>A

1 paper

NM_080873.3

p.T133I

c.398C>T

1 paper

NM_080873.3

p.L290P

c.869T>C

2 papers

NM_080873.3

p.G300S

c.898G>A

1 paper

NM_080873.3

p.R301*

c.901C>T

1 paper

NM_080873.3

p.L312_E314del0

c.936_941del6