Varaico: Literature-Extracted Genetic Variants

Gene:SHKBP1
Variant:p.R139Q

SHKBP1

59 papers

Pfam Domains

BTB_2aa 21–110UCSCBTB/POZ domain

Gene Aliases

HGNC Name

SH3KBP1 binding protein 1

HGNC Alias Symbols

PP203; Sb1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_138392.4
p.R139Q
c.416G>A
Surrounding Variants
1 paper
NM_138392.4
p.Q150R
c.449A>G
1 paper
NM_138392.4
p.R154Q
c.461G>A
1 paper
NM_138392.4
p.R176*
c.526C>T
1 paper
NM_138392.4
p.G201R
c.601G>A
4 papers
NM_138392.4
p.A207T
c.619G>A
1 paper
NM_138392.4
p.A209delFs
c.626delC
1 paper
NM_138392.4
p.R218T
c.653G>C
1 paper
NM_138392.4
p.H248L
c.743A>T
1 paper
NM_138392.4
p.A262T
c.784G>A
1 paper
NM_138392.4
p.P131A
c.391C>G
1 paper
NM_138392.4
p.S120del1
c.358_359delTCT
1 paper
NM_138392.4
p.R113L
c.338G>T
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