Varaico: Literature-Extracted Genetic Variants

Gene:ASB15
Variant:p.Y578*

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.Y578*
c.1734T>A
Surrounding Variants
2 papers
NM_001290258.2
p.Y578*
c.1734T>G
1 paper
NM_001290258.2
p.S559A
c.1675T>G
1 paper
NM_001290258.2
p.A558V
c.1673C>T
1 paper
NM_001290258.2
p.R547K
c.1640G>A
2 papers
NM_001290258.2
p.R546*
c.1636C>T
1 paper
NM_001290258.2
p.L543insFs
c.1628_1629insA
1 paper
NM_001290258.2
p.L543fs
c.1627_1628fs
1 paper
NM_001290258.2
p.I530V
c.1588A>G
1 paper
NM_001290258.2
p.R528H
c.1583G>A
1 paper
NM_001290258.2
p.E523G
c.1568A>G
1 paper
NM_001290258.2
p.R522T
c.1565G>C
1 paper
NM_001290258.2
p.A517V
c.1550C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."