Varaico: Literature-Extracted Genetic Variants

Gene:STAMBPL1
Variant:p.K278R

STAMBPL1

55 papers

Pfam Domains

USP8_dimeraa 22–132UCSCUSP8 dimerisation domain
JABaa 264–373UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease

Gene Aliases

HGNC Name

STAM binding protein like 1

HGNC Alias Symbols

AMSH-LP; KIAA1373; AMSH-FP; FLJ31524; ALMalpha; bA399O19.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020799.4
p.K278R
c.833A>G
Surrounding Variants
1 paper
NM_020799.4
p.T287S
c.859A>T
1 paper
NM_020799.4
p.C268R
c.802T>C
3 papers
NM_020799.4
p.E292A
c.875A>C
1 paper
NM_020799.4
p.C298fs
c.892_893fs
1 paper
NM_020799.4
p.S256G
c.766A>G
2 papers
NM_020799.4
p.E204K
c.610G>A
1 paper
NM_020799.4
p.E204fs
c.610_611fs
1 paper
NM_020799.4
p.L202P
c.605T>C
1 paper
NM_020799.4
p.S196N
c.587G>A
1 paper
NM_020799.4
p.R195*
c.583C>T
1 paper
NM_020799.4
p.R191Q
c.572G>A
1 paper
NM_020799.4
p.A190A
c.570C>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."