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

5 papers

NM_001142459.2

p.R237G

c.709C>G

NM_080871.4

p.R222G

c.664C>G

Surrounding Variants

1 paper

NM_001142459.2

p.R237W

c.709C>T

1 paper

NM_080871.4

p.G223G

c.669G>A

1 paper

NM_001142459.2

p.D232A

c.695A>C

1 paper

NM_001142459.2

p.D242N

c.724G>A

1 paper

NM_001142459.2

p.E229D

c.687G>T

NM_080871.4

p.E214D

c.642G>T

1 paper

NM_001142459.2

p.E229D

c.687G>C

NM_080871.4

p.E214D

c.642G>C

1 paper

NM_001142459.2

p.R244H

c.731G>A

1 paper

NM_001142459.2

p.A246A

c.738C>T

1 paper

NM_001142459.2

p.H227L

c.680A>T

2 papers

NM_080871.4

p.G233V

c.698G>T

NM_001142459.2

p.G248V

c.743G>T

1 paper

NM_080871.4

p.R209P

c.626G>C

1 paper

NM_080871.4

p.R209W

c.625C>T