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

1 paper

NM_080871.4

p.R195R

c.583C>A

Surrounding Variants

1 paper

NM_080871.4

p.R195W

c.583C>T

8 papers

NM_080871.4

p.V192L

c.574G>T

NM_001142459.2

p.V207L

c.619G>T

9 papers

NM_080871.4

p.V192L

c.574G>C

NM_001142459.2

p.V207L

c.619G>C

1 paper

NM_080871.4

p.A190V

c.569C>T

1 paper

NM_001142459.2

p.E214D

c.642A>T

1 paper

NM_001142459.2

p.E214D

c.642A>C

2 papers

NM_080871.4

p.A182V

c.545C>T

NM_001142459.2

p.A197V

c.590C>T

2 papers

NM_001142459.2

p.A223T

c.667G>A

1 paper

NM_080871.4

p.R209W

c.625C>T

1 paper

NM_080871.4

p.R209P

c.626G>C

1 paper

NM_001142459.2

p.E195Splc

c.585-4A>G

1 paper

NM_001142459.2

p.H227L

c.680A>T