Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.S42N

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.S42N
c.125G>A
Surrounding Variants
1 paper
NM_001007228.2
p.F43V
c.127T>G
1 paper
NM_001007228.2
p.N39_F41delins
c.116_122delinsC
1 paper
NM_001007228.2
p.S42_F43del1
c.126_128delAAG
1 paper
NM_001007228.2
p.C44fs
c.130_131fs
1 paper
NM_001007228.2
p.M35_N40del0
c.105_119del15
1 paper
NM_001007228.2
p.C44S
c.131G>C
1 paper
NM_001007228.2
p.C44Y
c.131G>A
1 paper
NM_001007228.2
p.F43del1
c.127_128delAAA
1 paper
NM_001007228.2
p.F43_C44del1
c.129_131delCAA
1 paper
NM_001007228.2
p.R45W
c.133C>T
3 papers
NM_001007228.2
p.R45L
c.134G>T
1 paper
NM_001007228.2
p.F41_R45del0
c.123_134del12
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