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.P372R

c.1115C>G

Surrounding Variants

1 paper

NM_017873.4

p.P372L

c.1115C>T

1 paper

NM_017873.4

p.P372A

c.1114C>G

1 paper

NM_017873.4

p.P373L

c.1118C>T

1 paper

NM_017873.4

p.A382A

c.1146C>T

1 paper

NM_017873.4

p.P391T

c.1171C>A

1 paper

NM_017873.4

p.P343R

c.1028C>G

1 paper

NM_017873.4

p.P343A

c.1027C>G

1 paper

NM_017873.4

p.V334insFs

c.1000dupG

1 paper

NM_017873.4

p.S411S

c.1233C>T

1 paper

NM_017873.4

p.A285A

c.855C>T

1 paper

NM_017873.4

p.F279L

c.837C>G

1 paper

NM_017873.4

p.F279L

c.837C>A