Varaico: Literature-Extracted Genetic Variants

Gene:ASB15
Variant:p.K66E

ASB15

65 papers

Pfam Domains

Ank_2aa 47–141UCSCAnkyrin repeats (3 copies)
Ank_2aa 135–207UCSCAnkyrin repeats (3 copies)
Ank_2aa 214–305UCSCAnkyrin repeats (3 copies)
Ank_2aa 247–337UCSCAnkyrin repeats (3 copies)
Ank_2aa 298–380UCSCAnkyrin repeats (3 copies)
SOCS_boxaa 533–574UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 15

HGNC Alias Symbol

FLJ43370

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001290258.2
p.K66E
c.196A>G
Surrounding Variants
1 paper
NM_001290258.2
p.P57L
c.170C>T
2 papers
NM_001290258.2
p.I56I
c.168T>A
1 paper
NM_001290258.2
p.G54S
c.160G>A
1 paper
NM_001290258.2
p.R45K
c.134G>A
1 paper
NM_001290258.2
p.N44H
c.130A>C
1 paper
NM_001290258.2
p.T102A
c.304A>G
1 paper
NM_001290258.2
p.E132D
c.396A>C
1 paper
NM_001290258.2
p.E132D
c.396A>T
1 paper
NM_001290258.2
p.G134R
c.400G>A
1 paper
NM_001290258.2
p.G134R
c.400G>C
1 paper
NM_001290258.2
p.T139insFs
c.416_417insA
1 paper
NM_001290258.2
p.N141H
c.421A>C
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