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

Selected Variant

1 paper

NM_080874.4

p.I134L

c.400A>C

Surrounding Variants

1 paper

NM_080874.4

p.I134L

c.400A>T

1 paper

NM_080874.4

p.T133M

c.398C>T

1 paper

NM_080874.4

p.P139S

c.415C>T

1 paper

NM_080874.4

p.F141C

c.422T>G

1 paper

NM_080874.4

p.C151F

c.452G>T

1 paper

NM_080874.4

p.E153Q

c.457G>C

1 paper

NM_080874.4

p.L156Q

c.467T>A

1 paper

NM_080874.4

p.P169L

c.506C>T

1 paper

NM_080874.4

p.G179V

c.536G>T

1 paper

NM_080874.4

p.L184V

c.550C>G

1 paper

NM_080874.4

p.V194I

c.580G>A

1 paper

NM_080874.4

p.P204S

c.610C>T