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

Selected Variant

1 paper

NM_212556.4

p.H407N

c.1219C>A

Surrounding Variants

2 papers

NM_212556.4

p.R422H

c.1265G>A

1 paper

NM_212556.4

p.R429C

c.1285C>T

1 paper

NM_212556.4

p.L443F

c.1327C>T

1 paper

NM_212556.4

p.P452S

c.1354C>T

1 paper

NM_212556.4

p.Q405_M406Splc

c.1215+10C>T

1 paper

NM_212556.4

p.W395R

c.1183T>C

1 paper

NM_212556.4

p.L391*

c.1172T>A