Varaico: Literature-Extracted Genetic Variants

Gene:ASB8
Variant:p.V134A

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.V134A
c.401T>C
Surrounding Variants
1 paper
NM_024095.5
p.A158V
c.473C>T
1 paper
NM_024095.5
p.N163T
c.488A>C
1 paper
NM_024095.5
p.L90del1
c.268_270delGAG
1 paper
NM_024095.5
p.R87*
c.259C>T
1 paper
NM_024095.5
p.T201A
c.601A>G
1 paper
NM_024095.5
p.E204*
c.610G>T
1 paper
NM_024095.5
p.D205A
c.614A>C
1 paper
NM_024095.5
p.G216G
c.648A>C
1 paper
NM_024095.5
p.K222fs
c.664_665fs
1 paper
NM_024095.5
p.L236Q
c.707T>A
1 paper
NM_024095.5
p.R260H
c.779G>A
1 paper
NM_024095.5
p.P268_A270del3
c.802_809del9
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