Varaico: Literature-Extracted Genetic Variants

ASB2

54 papers

RefSeq Summary

This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) pr...

Pfam Domains

Ank_4aa 109–158UCSCAnkyrin repeats (many copies)

Ank_2aa 176–268UCSCAnkyrin repeats (3 copies)

Ank_2aa 261–334UCSCAnkyrin repeats (3 copies)

Ank_2aa 308–398UCSCAnkyrin repeats (3 copies)

Ank_2aa 399–471UCSCAnkyrin repeats (3 copies)

SOCS_boxaa 592–630UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 2

HGNC Alias Symbol

ASB-2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

5 papers

NM_001202429.2

p.R59C

c.175C>T

3 papers

NM_001202429.2

p.R603Q

c.1808G>A

2 papers

NM_001202429.2

p.M124L

c.370A>T

2 papers

NM_001202429.2

p.V370I

c.1108G>A

1 paper

NM_001202429.2

p.T3M

c.8C>T

1 paper

NM_001202429.2

p.Q16fs

c.46_47fs

1 paper

NM_001202429.2

p.Q16delFs

c.46delG

1 paper

NM_001202429.2

p.E27K

c.79G>A

1 paper

NM_001202429.2

p.E29D

c.87A>T

1 paper

NM_001202429.2

p.E36K

c.106G>A

1 paper

NM_001202429.2

p.L39L

c.115C>T

1 paper

NM_001202429.2

p.A53A

c.159G>A