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.G283R

c.847G>A

Surrounding Variants

1 paper

NM_212556.4

p.G283R

c.847G>C

1 paper

NM_212556.4

p.A277T

c.829G>A

1 paper

NM_212556.4

p.E291K

c.871G>A

1 paper

NM_212556.4

p.D267N

c.799G>A

1 paper

NM_212556.4

p.A263P

c.787G>C

1 paper

NM_212556.4

p.A262T

c.784G>A

1 paper

NM_212556.4

p.A304V

c.911C>T

1 paper

NM_212556.4

p.G261S

c.781G>A

1 paper

NM_212556.4

p.G316D

c.947G>A

2 papers

NM_212556.4

p.R241L

c.722G>T

1 paper

NM_212556.4

p.R241H

c.722G>A

1 paper

NM_212556.4

p.A340T

c.1018G>A