Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.G128S

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.G128S
c.382G>A
Surrounding Variants
1 paper
NM_001007228.2
p.G128D
c.383G>A
1 paper
NM_001007228.2
p.Q127E
c.379C>G
15 papers
NM_001007228.2
p.K129E
c.385A>G
7 papers
NM_001007228.2
p.D130H
c.388G>C
6 papers
NM_001007228.2
p.D130N
c.388G>A
1 paper
NM_001007228.2
p.D130fs
c.388_389fs
4 papers
NM_001007228.2
p.F125L
c.375T>G
4 papers
NM_001007228.2
p.F125L
c.375T>A
3 papers
NM_001007228.2
p.D130V
c.389A>T
1 paper
NM_001007228.2
p.D130A
c.389A>C
1 paper
NM_001007228.2
p.D130delFs
c.388delC
8 papers
NM_001007228.2
p.F125C
c.374T>G
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