Varaico: Literature-Extracted Genetic Variants

Gene:SAP130
Variant:p.G10R

SAP130

34 papers

RefSeq Summary

SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008].

Pfam Domains

SAP130_Caa 678–1031UCSCHistone deacetylase complex subunit SAP130 C-terminus

Gene Aliases

HGNC Name

Sin3A associated protein 130

HGNC Alias Symbol

FLJ12761

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330301.2
p.G10R
c.28G>C
Surrounding Variants
1 paper
NM_001330301.2
p.G10R
c.28G>A
1 paper
NM_001330301.2
p.S17N
c.50G>A
1 paper
NM_001330301.2
p.A36T
c.106G>A
1 paper
NM_001330301.2
p.V38fs
c.112_113fs
1 paper
NM_001330301.2
p.P76L
c.227C>T
1 paper
NM_001330301.2
p.A88T
c.262G>A
1 paper
NM_001330301.2
p.P92S
c.274C>T
1 paper
NM_001330301.2
p.P92L
c.275C>T
1 paper
NM_001330301.2
p.T96I
c.287C>T
1 paper
NM_001330301.2
p.T122I
c.365C>T
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