Varaico: Literature-Extracted Genetic Variants

ASB6

22 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SO...

Pfam Domains

Ank_2aa 41–133UCSCAnkyrin repeats (3 copies)

Ank_4aa 141–187UCSCAnkyrin repeats (many copies)

SOCS_boxaa 371–410UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 6

HGNC Previous Name

ankyrin repeat and SOCS box-containing 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017873.4

p.R113W

c.337C>T

Surrounding Variants

1 paper

NM_017873.4

p.A110A

c.330C>T

1 paper

NM_017873.4

p.P116Q

c.347C>A

1 paper

NM_017873.4

p.G126R

c.376G>C

1 paper

NM_017873.4

p.G126R

c.376G>A

1 paper

NM_017873.4

p.D128N

c.382G>A

1 paper

NM_017873.4

p.E137K

c.409G>A

1 paper

NM_017873.4

p.A93S

c.277G>T

1 paper

NM_017873.4

p.V87I

c.259G>A

1 paper

NM_017873.4

p.R244W

c.730C>T

1 paper

NM_017873.4

p.C256C

c.768C>T

1 paper

NM_017873.4

p.H273Y

c.817C>T

1 paper

NM_017873.4

p.E45K

c.133G>A