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.A79D

c.236C>A

Surrounding Variants

1 paper

NM_001202429.2

p.P78L

c.233C>T

1 paper

NM_001202429.2

p.A106A

c.318G>T

1 paper

NM_001202429.2

p.K111T

c.332A>C

2 papers

NM_001202429.2

p.M124L

c.370A>T

1 paper

NM_001202429.2

p.N135H

c.403A>C

1 paper

NM_001202429.2

p.K155E

c.463A>G

1 paper

NM_001202429.2

p.A160A

c.480G>T

1 paper

NM_001202429.2

p.S190_D199del10

c.568_596del30

1 paper

NM_001202429.2

p.T207S

c.619A>T

1 paper

NM_001202429.2

p.A220A

c.660C>T

1 paper

NM_001202429.2

p.R237H

c.710G>A

1 paper

NM_001202429.2

p.T240T

c.720C>T