Varaico: Literature-Extracted Genetic Variants

Gene:SIN3A
Variant:p.K937delFs

SIN3A

240 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repre...

Pfam Domains

PAHaa 142–186UCSCPaired amphipathic helix repeat
PAHaa 323–380UCSCPaired amphipathic helix repeat
PAHaa 478–522UCSCPaired amphipathic helix repeat
Sin3_corepressaa 552–647UCSCSin3 family co-repressor
Sin3a_Caa 886–1186UCSCC-terminal domain of Sin3a protein

Gene Aliases

HGNC Name

SIN3 transcription regulator family member A

HGNC Alias Symbols

KIAA0700; DKFZP434K2235

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001145358.2
p.K937delFs
c.2809_2810delTT
Surrounding Variants
2 papers
NM_001145358.2
p.K937fs
c.2809_2810fs
3 papers
NM_001145358.2
p.R935*
c.2803C>T
1 paper
NM_001145358.2
p.Q944*
c.2830C>T
1 paper
NM_001145358.2
p.R946H
c.2837G>A
1 paper
NM_001145358.2
p.E949*
c.2845G>T
1 paper
NM_001145358.2
p.E925G
c.2774A>G
1 paper
NM_001145358.2
p.E923D
c.2769G>T
1 paper
NM_001145358.2
p.E923D
c.2769G>C
1 paper
NM_001145358.2
p.M951Splc
c.2851+5G>A
1 paper
NM_001145358.2
p.R922*
c.2764C>T
1 paper
NM_001145358.2
p.E919K
c.2755G>A
1 paper
NM_001145358.2
p.R915R
c.2745G>A
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