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

3 papers

NM_080871.4

p.H317Q

c.951C>G

NM_001142459.2

p.H332Q

c.996C>G

Surrounding Variants

3 papers

NM_080871.4

p.H317Q

c.951C>A

NM_001142459.2

p.H332Q

c.996C>A

1 paper

NM_001142459.2

p.L335V

c.1003C>G

1 paper

NM_001142459.2

p.P330T

c.988C>A

3 papers

NM_080871.4

p.T314M

c.941C>T

NM_001142459.2

p.T329M

c.986C>T

1 paper

NM_001142459.2

p.A341D

c.1022C>A

1 paper

NM_001142459.2

p.L342L

c.1024C>T

1 paper

NM_001142459.2

p.L342P

c.1025T>C

NM_080871.4

p.L327P

c.980T>C

3 papers

NM_080871.4

p.A305T

c.913G>A

NM_001142459.2

p.A320T

c.958G>A

1 paper

NM_001142459.2

p.S345N

c.1034G>A

1 paper

NM_080871.4

p.P331S

c.991C>T

1 paper

NM_001142459.2

p.V349A

c.1046T>C

1 paper

NM_001142459.2

p.V349V

c.1047G>T