Varaico: Literature-Extracted Genetic Variants

Gene:ASB15
Variant:p.R417_P419delFs

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.R417_P419delFs
c.1251_1257del7
Surrounding Variants
1 paper
NM_001290258.2
p.R417fs
c.1249_1250fs
1 paper
NM_001290258.2
p.T416_R417insA
c.1246_1250ins3
1 paper
NM_001290258.2
p.Q423K
c.1267C>A
1 paper
NM_001290258.2
p.D428N
c.1282G>A
1 paper
NM_001290258.2
p.E429K
c.1285G>A
2 papers
NM_001290258.2
p.G403*
c.1207G>T
1 paper
NM_001290258.2
p.L435M
c.1303T>A
1 paper
NM_001290258.2
p.L385F
c.1153C>T
1 paper
NM_001290258.2
p.S457L
c.1370C>T
1 paper
NM_001290258.2
p.V358I
c.1072G>A
3 papers
NM_001290258.2
p.G357A
c.1070G>C
1 paper
NM_001290258.2
p.S343Y
c.1028C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."