Varaico: Literature-Extracted Genetic Variants

ASB3

35 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 14–109UCSCAnkyrin repeats (3 copies)

Ank_2aa 107–176UCSCAnkyrin repeats (3 copies)

Ank_2aa 150–242UCSCAnkyrin repeats (3 copies)

Ank_2aa 239–310UCSCAnkyrin repeats (3 copies)

SOCS_boxaa 458–499UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 3

HGNC Alias Symbol

ASB-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001201965.2

p.G129Splc

c.386-3T>C

Surrounding Variants

1 paper

NM_016115.5

p.D211_L216del0

c.631_648del18

1 paper

NM_016115.5

p.T270I

c.809C>T

1 paper

NM_016115.5

p.D275Y

c.823G>T

1 paper

NM_016115.5

p.A308T

c.922G>A