Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.S119R

SPOP

535 papers

RefSeq Summary

This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone...

Pfam Domains

MATH_2aa 33–161UCSCMATH domain
BTBaa 190–297UCSCBTB/POZ domain
BACK_BPM_SPOPaa 301–353UCSCBPM/SPOP, BACK domain

Gene Aliases

HGNC Name

speckle type BTB/POZ protein

HGNC Alias Symbols

TEF2; BTBD32

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001007228.2
p.S119R
c.355A>C
Surrounding Variants
2 papers
NM_001007228.2
p.S119G
c.355A>G
31 papers
NM_001007228.2
p.S119N
c.356G>A
3 papers
NM_001007228.2
p.S119R
c.357T>G
3 papers
NM_001007228.2
p.S119R
c.357T>A
1 paper
NM_001007228.2
p.E118G
c.353A>G
1 paper
NM_001007228.2
p.E118*
c.352G>T
1 paper
NM_001007228.2
p.Q120L
c.359A>T
1 paper
NM_001007228.2
p.E118Splc
c.353-2A>T
2 papers
NM_001007228.2
p.Q120R
c.359A>G
2 papers
NM_001007228.2
p.R121W
c.361C>T
2 papers
NM_001007228.2
p.R121P
c.362G>C
23 papers
NM_001007228.2
p.R121Q
c.362G>A
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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."