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

1–12 of 206 variants

7 papers

NM_001142459.2

p.V207L

c.619G>C

6 papers

NM_001142459.2

p.V207L

c.619G>T

5 papers

NM_001142459.2

p.R72H

c.215G>A

5 papers

NM_001142459.2

p.A255A

c.765C>T

4 papers

NM_001142459.2

p.A157V

c.470C>T

4 papers

NM_001142459.2

p.R304C

c.910C>T

4 papers

NM_001142459.2

p.R453C

c.1357C>T

4 papers

NM_080871.4

p.R438C

c.1312C>T

3 papers

NM_080871.4

p.A157V

c.470C>T

3 papers

NM_001142459.2

p.R237G

c.709C>G

3 papers

NM_080871.4

p.R222G

c.664C>G

3 papers

NM_001142459.2

p.T270T

c.810C>T