Varaico: Literature-Extracted Genetic Variants

ASB18

42 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 124–215UCSCAnkyrin repeats (3 copies)

Ank_2aa 223–321UCSCAnkyrin repeats (3 copies)

SOCS_boxaa 420–458UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 18

HGNC Previous Name

ankyrin repeat and SOCS box-containing 18

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

3 papers

NM_212556.4

p.A104T

c.310G>A

2 papers

NM_212556.4

p.R241L

c.722G>T

2 papers

NM_212556.4

p.R422H

c.1265G>A

1 paper

NM_212556.4

p.L20*

c.59T>G

1 paper

NM_212556.4

p.L20*

c.59T>A

1 paper

NM_212556.4

p.D53Y

c.157G>T

1 paper

NM_212556.4

p.K93*

c.277A>T

1 paper

NM_212556.4

p.M96L

c.286A>T

1 paper

NM_212556.4

p.M96L

c.286A>C

1 paper

NM_212556.4

p.V100G

c.299T>G

1 paper

NM_212556.4

p.A127P

c.379G>C

1 paper

NM_212556.4

p.H130H

c.390C>T