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

1–12 of 33 variants

2 papers

NM_016115.5

p.S12C

c.35C>G

2 papers

NM_016115.5

p.H91R

c.272A>G

2 papers

NM_016115.5

p.E157D

c.471A>T

2 papers

NM_016115.5

p.E157D

c.471A>C

2 papers

NM_001201965.2

p.G129Splc

c.386-3T>C

1 paper

NM_016115.5

p.D9Y

c.25G>T

1 paper

NM_016115.5

p.S12F

c.35C>T

1 paper

NM_016115.5

p.R19K

c.56G>A

1 paper

NM_016115.5

p.L26*

c.77T>G

1 paper

NM_016115.5

p.L26*

c.77T>A

1 paper

NM_016115.5

p.L30V

c.88C>G

1 paper

NM_016115.5

p.R34*

c.100C>T