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_001142459.2

p.V62M

c.184G>A

NM_080871.4

p.G91Splc

c.272-288G>A

Surrounding Variants

2 papers

NM_001142459.2

p.G65E

c.194G>A

2 papers

NM_001142459.2

p.V67M

c.199G>A

1 paper

NM_001142459.2

p.G68G

c.204C>G

1 paper

NM_001142459.2

p.R72C

c.214C>T

5 papers

NM_001142459.2

p.R72H

c.215G>A

1 paper

NM_001142459.2

p.R49C

c.145C>T

NM_080871.4

p.G91Splc

c.272-327C>T

1 paper

NM_001142459.2

p.A75E

c.224C>A

1 paper

NM_001142459.2

p.A75A

c.225G>A

2 papers

NM_001142459.2

p.T48S

c.143C>G

2 papers

NM_001142459.2

p.T48S

c.142A>T

1 paper

NM_001142459.2

p.I46V

c.136A>G

1 paper

NM_001142459.2

p.G80S

c.238G>A