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.L274Q

c.821T>A

Surrounding Variants

1 paper

NM_001142459.2

p.Q275H

c.825G>C

3 papers

NM_080871.4

p.R257H

c.770G>A

NM_001142459.2

p.R272H

c.815G>A

5 papers

NM_080871.4

p.T255T

c.765C>T

NM_001142459.2

p.T270T

c.810C>T

2 papers

NM_001142459.2

p.E267K

c.799G>A

2 papers

NM_001142459.2

p.A266A

c.798C>T

NM_080871.4

p.A251A

c.753C>T

1 paper

NM_001142459.2

p.A285A

c.855A>G

1 paper

NM_001142459.2

p.C260F

c.779G>T

1 paper

NM_001142459.2

p.A290V

c.869C>T

3 papers

NM_001142459.2

p.A290A

c.870G>C

NM_080871.4

p.A275A

c.825G>C

1 paper

NM_080871.4

p.D276N

c.826G>A

3 papers

NM_001142459.2

p.D291G

c.872A>G

NM_080871.4

p.D276G

c.827A>G

1 paper

NM_001142459.2

p.D257N

c.769G>A