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

1 paper

NM_024701.4

p.A58T

c.172G>A

Surrounding Variants

1 paper

NM_024701.4

p.Q34R

c.101A>G

1 paper

NM_024701.4

p.R20L

c.59G>T

1 paper

NM_024701.4

p.G85D

c.254G>A

1 paper

NM_024701.4

p.T87N

c.260C>A

2 papers

NM_024701.4

p.C100R

c.298T>C

1 paper

NM_024701.4

p.K102E

c.304A>G

1 paper

NM_024701.4

p.G108R

c.322G>C

1 paper

NM_024701.4

p.G108R

c.322G>A

1 paper

NM_024701.4

p.G108fs

c.322_323fs

1 paper

NM_024701.4

p.L115M

c.343C>A

1 paper

NM_024701.4

p.L121delFs

c.361delG

4 papers

NM_024701.4

p.V139G

c.416T>G