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.L415F

c.1243C>T

Surrounding Variants

1 paper

NM_001142460.1

p.L387M

c.1159C>A

1 paper

NM_001142459.2

p.R434C

c.1300C>T

1 paper

NM_001142459.2

p.H436N

c.1306C>A

2 papers

NM_080871.4

p.S425G

c.1273A>G

2 papers

NM_001142459.2

p.R447H

c.1340G>A

NM_080871.4

p.R432H

c.1295G>A

1 paper

NM_001142459.2

p.P449L

c.1346C>T

7 papers

NM_001142459.2

p.R453C

c.1357C>T

NM_080871.4

p.R438C

c.1312C>T

1 paper

NM_080871.4

p.R441L

c.1322G>T

2 papers

NM_001142459.2

p.L460insFs

c.1378_1379insT

1 paper

NM_001142459.2

p.Q406_K407Splc

c.1218+42T>C

5 papers

NM_001142459.2

p.P402T

c.1204C>A

NM_080871.4

p.P387T

c.1159C>A

1 paper

NM_080871.4

p.E379K

c.1135G>A