Varaico: Literature-Extracted Genetic Variants

ASB13

36 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 a SOCS box domain. The SOCS box serves to ...

Pfam Domains

Ank_2aa 11–82UCSCAnkyrin repeats (3 copies)

Ank_2aa 62–147UCSCAnkyrin repeats (3 copies)

Ank_2aa 122–212UCSCAnkyrin repeats (3 copies)

SOCS_boxaa 238–276UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 13

HGNC Alias Symbols

FLJ13134; MGC19879

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024701.4

p.L250F

c.750G>C

Surrounding Variants

2 papers

NM_024701.4

p.L250F

c.750G>T

1 paper

NM_024701.4

p.R270W

c.808C>T

1 paper

NM_024701.4

p.K237Splc

c.710-263A>C

1 paper

NM_024701.4

p.P228S

c.682C>T

1 paper

NM_024701.4

p.K216R

c.647A>G

1 paper

NM_024701.4

p.D212D

c.636C>T

1 paper

NM_024701.4

p.R211Q

c.632G>A

1 paper

NM_024701.4

p.D196Y

c.586G>T

1 paper

NM_024701.4

p.A189T

c.565G>A

1 paper

NM_024701.4

p.L170H

c.509T>A

1 paper

NM_024701.4

p.D164Y

c.490G>T

1 paper

NM_024701.4

p.H162R

c.485A>G