Varaico: Literature-Extracted Genetic Variants

Gene:ASB15
Variant:p.D241delFs

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
2 papers
NM_001290258.2
p.D241delFs
c.721delG
Surrounding Variants
2 papers
NM_001290258.2
p.A240fs
c.718_719fs
1 paper
NM_001290258.2
p.D241fs
c.721_722fs
1 paper
NM_001290258.2
p.A238fs
c.712_713fs
2 papers
NM_001290258.2
p.V236M
c.706G>A
1 paper
NM_001290258.2
p.D257V
c.770A>T
1 paper
NM_001290258.2
p.R274*
c.820C>T
1 paper
NM_001290258.2
p.R274Q
c.821G>A
6 papers
NM_001290258.2
p.R282*
c.844C>T
1 paper
NM_001290258.2
p.S314*
c.941C>A
1 paper
NM_001290258.2
p.S314*
c.941C>G
1 paper
NM_001290258.2
p.L327I
c.979C>A
1 paper
NM_001290258.2
p.L327F
c.979C>T
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