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

1–12 of 29 variants

3 papers

NM_080873.3

p.R208W

c.622A>T

2 papers

NM_080873.3

p.S165L

c.494C>T

2 papers

NM_080873.3

p.G300S

c.898G>A

1 paper

NM_080873.3

p.M1I

c.3G>T

1 paper

NM_080873.3

p.M1I

c.3G>C

1 paper

NM_080873.3

p.M1I

c.3G>A

1 paper

NM_080873.3

p.T20fs

c.58_59fs

1 paper

NM_080873.3

p.T20delFs

c.60delC

1 paper

NM_080873.3

p.F23fs

c.67_68fs

1 paper

NM_080873.3

p.F23delFs

c.68delA

1 paper

NM_080873.3

p.I28L

c.82A>C

1 paper

NM_080873.3

p.L34L

c.102C>A