Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.S80R

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
14 papers
NM_001007228.2
p.S80R
c.240C>A
Surrounding Variants
14 papers
NM_001007228.2
p.S80R
c.240C>G
1 paper
NM_001007228.2
p.S80I
c.239G>T
1 paper
NM_001007228.2
p.K81E
c.241A>G
14 papers
NM_001007228.2
p.S80R
c.238A>C
1 paper
NM_001007228.2
p.D82Y
c.244G>T
1 paper
NM_001007228.2
p.D82H
c.244G>C
3 papers
NM_001007228.2
p.E79K
c.235G>A
15 papers
NM_001007228.2
p.E78K
c.232G>A
1 paper
NM_001007228.2
p.Y83F
c.248A>T
5 papers
NM_001007228.2
p.Y83C
c.248A>G
1 paper
NM_001007228.2
p.Y83S
c.248A>C
1 paper
NM_001007228.2
p.D77E
c.231T>G
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