Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.E47A

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
4 papers
NM_001007228.2
p.E47A
c.140A>C
Surrounding Variants
1 paper
NM_001007228.2
p.E47G
c.140A>G
2 papers
NM_001007228.2
p.E47Q
c.139G>C
16 papers
NM_001007228.2
p.E47K
c.139G>A
1 paper
NM_001007228.2
p.F41_E46del0
c.121_138del18
1 paper
NM_001007228.2
p.I38_E46del0
c.112_138del27
1 paper
NM_001007228.2
p.M35_E46del0
c.103_138del36
1 paper
NM_001007228.2
p.M48I
c.144G>T
1 paper
NM_001007228.2
p.M48I
c.144G>C
4 papers
NM_001007228.2
p.E46K
c.136G>A
1 paper
NM_001007228.2
p.M48I
c.144G>A
1 paper
NM_001007228.2
p.F41_R45del0
c.123_134del12
3 papers
NM_001007228.2
p.R45L
c.134G>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."