Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.M117R

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
1 paper
NM_001007228.2
p.M117R
c.350T>G
Surrounding Variants
2 papers
NM_001007228.2
p.M117T
c.350T>C
6 papers
NM_001007228.2
p.M117I
c.351G>T
6 papers
NM_001007228.2
p.M117I
c.351G>C
6 papers
NM_001007228.2
p.M117I
c.351G>A
17 papers
NM_001007228.2
p.M117V
c.349A>G
1 paper
NM_001007228.2
p.E118*
c.352G>T
1 paper
NM_001007228.2
p.K115E
c.343A>G
1 paper
NM_001007228.2
p.E118Splc
c.352+8T>G
2 papers
NM_001007228.2
p.T114A
c.340A>G
1 paper
NM_001007228.2
p.T114P
c.340A>C
1 paper
NM_001007228.2
p.G111A
c.332G>C
2 papers
NM_001007228.2
p.G111E
c.332G>A
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