Varaico: Literature-Extracted Genetic Variants

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.Y524_E526delFs

c.1570_1577del8

Surrounding Variants

1 paper

NM_001145358.2

p.E526fs

c.1576_1577fs

1 paper

NM_001145358.2

p.E526delFs

c.1576delC

1 paper

NM_001145358.2

p.K525T

c.1574A>C

1 paper

NM_001145358.2

p.K525_E526ins7

c.1573_1577ins21

1 paper

NM_001145358.2

p.Y524fs

c.1570_1571fs

2 papers

NM_001145358.2

p.Y524fs

c.1570_1571fs

2 papers

NM_001145358.2

p.N520I

c.1559A>T

1 paper

NM_001145358.2

p.N516insFs

c.1546_1547insC

1 paper

NM_001145358.2

p.E540K

c.1618G>A

1 paper

NM_001145358.2

p.P512S

c.1534C>T

1 paper

NM_001145358.2

p.E545A

c.1634A>C

1 paper

NM_001145358.2

p.Y548C

c.1643A>G