Varaico: Literature-Extracted Genetic Variants

ASB5

34 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 16–88UCSCAnkyrin repeats (3 copies)

Ank_2aa 40–133UCSCAnkyrin repeats (3 copies)

Ank_2aa 74–166UCSCAnkyrin repeats (3 copies)

Ank_2aa 130–198UCSCAnkyrin repeats (3 copies)

Ank_2aa 172–263UCSCAnkyrin repeats (3 copies)

SOCS_boxaa 289–327UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 5

HGNC Previous Name

ankyrin repeat and SOCS box-containing 5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

1 paper

NM_080874.4

p.M1I

c.3G>T

1 paper

NM_080874.4

p.M1I

c.3G>C

1 paper

NM_080874.4

p.M1I

c.3G>A

1 paper

NM_080874.4

p.L4I

c.10T>A

1 paper

NM_080874.4

p.R8W

c.22C>T

1 paper

NM_080874.4

p.R8G

c.22C>G

1 paper

NM_080874.4

p.P9T

c.25C>A

1 paper

NM_080874.4

p.E57K

c.169G>A

1 paper

NM_080874.4

p.Y59C

c.176A>G

1 paper

NM_080874.4

p.R82H

c.245G>A

1 paper

NM_080874.4

p.L83F

c.247C>T

1 paper

NM_080874.4

p.N97K

c.291T>G