Varaico: Literature-Extracted Genetic Variants

Gene:ASB11
Variant:p.D65Y

ASB11

27 papers

RefSeq Summary

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to co...

Pfam Domains

Ank_2aa 69–161UCSCAnkyrin repeats (3 copies)
Ank_2aa 159–226UCSCAnkyrin repeats (3 copies)
Ank_2aa 159–226UCSCAnkyrin repeats (3 copies)
Ank_2aa 222–285UCSCAnkyrin repeats (3 copies)
SOCS_boxaa 283–321UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 11

HGNC Alias Symbol

DKFZp779E2460

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080873.3
p.D65Y
c.193G>T
Surrounding Variants
1 paper
NM_080873.3
p.R77C
c.229C>T
1 paper
NM_080873.3
p.L78S
c.233T>C
1 paper
NM_080873.3
p.A86S
c.256G>T
1 paper
NM_080873.3
p.V99A
c.296T>C
1 paper
NM_080873.3
p.C113F
c.338G>T
1 paper
NM_080873.3
p.T133I
c.398C>T
1 paper
NM_080873.3
p.G142D
c.425G>A
2 papers
NM_080873.3
p.S165L
c.494C>T
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