Varaico: Literature-Extracted Genetic Variants

ASB10

92 papers

RefSeq Summary

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and ...

Pfam Domains

Ank_2aa 107–178UCSCAnkyrin repeats (3 copies)

Ank_2aa 159–245UCSCAnkyrin repeats (3 copies)

Ank_2aa 185–265UCSCAnkyrin repeats (3 copies)

Ank_2aa 266–361UCSCAnkyrin repeats (3 copies)

SOCS_boxaa 421–459UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 10

HGNC Previous Symbol

GLC1F

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_080871.4

p.A157V

c.470C>T

NM_001142459.2

p.A172V

c.515C>T

Surrounding Variants

1 paper

NM_001142459.2

p.D173E

c.519C>A

1 paper

NM_001142459.2

p.P174S

c.520C>T

1 paper

NM_001142459.2

p.A170S

c.508G>T

1 paper

NM_001142459.2

p.L168L

c.502C>T

1 paper

NM_001142459.2

p.A177T

c.529G>A

3 papers

NM_080871.4

p.R168C

c.502C>T

NM_001142459.2

p.R183C

c.547C>T

1 paper

NM_001142459.2

p.L185Q

c.554T>A

1 paper

NM_001142459.2

p.A158T

c.472G>A

4 papers

NM_001142459.2

p.A157V

c.470C>T

NM_080871.4

p.A142V

c.425C>T

3 papers

NM_080871.4

p.C173*

c.519C>A

NM_001142459.2

p.C188*

c.564C>A

3 papers

NM_080871.4

p.R174W

c.520C>T

NM_001142459.2

p.R189W

c.565C>T

1 paper

NM_080871.4

p.E139K

c.415G>A