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

6 papers

NM_001142459.2

p.R304C

c.910C>T

NM_080871.4

p.R289C

c.865C>T

Surrounding Variants

1 paper

NM_001142459.2

p.G305S

c.913G>A

1 paper

NM_001142459.2

p.H299Y

c.895C>T

1 paper

NM_001142459.2

p.V309D

c.926T>A

1 paper

NM_001142459.2

p.V310M

c.928G>A

1 paper

NM_080871.4

p.V295V

c.885G>T

1 paper

NM_001142459.2

p.R296Q

c.887G>A

NM_080871.4

p.R281Q

c.842G>A

2 papers

NM_001142459.2

p.R296*

c.886C>T

1 paper

NM_001142459.2

p.Q295H

c.885G>T

NM_080871.4

p.Q280H

c.840G>T

1 paper

NM_001142459.2

p.Q295H

c.885G>C

NM_080871.4

p.Q280H

c.840G>C

3 papers

NM_080871.4

p.Q280L

c.839A>T

NM_001142459.2

p.Q295L

c.884A>T

1 paper

NM_001142459.2

p.D291D

c.873C>T

3 papers

NM_001142459.2

p.D291G

c.872A>G

NM_080871.4

p.D276G

c.827A>G