Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.F41_K53del0

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.F41_K53del0
c.122_157del36
Surrounding Variants
1 paper
NM_001007228.2
p.K53*
c.157A>T
1 paper
NM_001007228.2
p.I52I
c.156T>A
1 paper
NM_001007228.2
p.E46_V51del0
c.138_152del15
1 paper
NM_001007228.2
p.S55fs
c.163_164fs
1 paper
NM_001007228.2
p.S55delFs
c.164delG
1 paper
NM_001007228.2
p.T56A
c.166A>G
26 papers
NM_001007228.2
p.E50K
c.148G>A
1 paper
NM_001007228.2
p.G49D
c.146G>A
1 paper
NM_001007228.2
p.F43_G49del0
c.128_145del18
1 paper
NM_001007228.2
p.M48I
c.144G>T
1 paper
NM_001007228.2
p.M48I
c.144G>C
1 paper
NM_001007228.2
p.M48I
c.144G>A
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