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

Selected Variant

1 paper

NM_001202429.2

p.R439C

c.1315C>T

Surrounding Variants

1 paper

NM_001202429.2

p.P437P

c.1311C>T

1 paper

NM_001202429.2

p.Y425H

c.1273T>C

1 paper

NM_001202429.2

p.C453Y

c.1358G>A

1 paper

NM_001202429.2

p.F417V

c.1249T>G

1 paper

NM_001202429.2

p.A400P

c.1198G>C

1 paper

NM_001202429.2

p.L492L

c.1476C>A

1 paper

NM_001202429.2

p.K493M

c.1478A>T

2 papers

NM_001202429.2

p.V370I

c.1108G>A

1 paper

NM_001202429.2

p.F540L

c.1618T>C

1 paper

NM_001202429.2

p.F540L

c.1620C>G

1 paper

NM_001202429.2

p.F540L

c.1620C>A

1 paper

NM_001202429.2

p.R551H

c.1652G>A