Varaico: Literature-Extracted Genetic Variants

Gene:ASB8
Variant:p.S31A

ASB8

22 papers

Pfam Domains

Ank_2aa 25–115UCSCAnkyrin repeats (3 copies)
Ankaa 55–81UCSCAnkyrin repeat
Ank_2aa 109–181UCSCAnkyrin repeats (3 copies)
Ank_2aa 109–181UCSCAnkyrin repeats (3 copies)
SOCS_boxaa 246–285UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 8

HGNC Alias Symbols

MGC5540; FLJ21255

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024095.5
p.S31A
c.91T>G
Surrounding Variants
1 paper
NM_024095.5
p.R30delFs
c.90delA
1 paper
NM_024095.5
p.R30H
c.89G>A
1 paper
NM_024095.5
p.S19delFs
c.55_56delGA
1 paper
NM_024095.5
p.Y7H
c.19T>C
1 paper
NM_024095.5
p.K55_P56del2
c.163_167del6
1 paper
NM_024095.5
p.A60V
c.179C>T
1 paper
NM_024095.5
p.V63M
c.187G>A
1 paper
NM_024095.5
p.S64L
c.191C>T
1 paper
NM_024095.5
p.R87*
c.259C>T
1 paper
NM_024095.5
p.L90del1
c.268_270delGAG
1 paper
NM_024095.5
p.V134A
c.401T>C
1 paper
NM_024095.5
p.A158V
c.473C>T
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