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.R553*

c.1657C>T

Surrounding Variants

1 paper

NM_001145358.2

p.R553Q

c.1658G>A

1 paper

NM_001145358.2

p.C551Y

c.1652G>A

1 paper

NM_001145358.2

p.Y548C

c.1643A>G

1 paper

NM_001145358.2

p.Y558C

c.1673A>G

1 paper

NM_001145358.2

p.R559*

c.1675C>T

1 paper

NM_001145358.2

p.E545A

c.1634A>C

1 paper

NM_001145358.2

p.P562A

c.1684C>G

2 papers

NM_001145358.2

p.K563fs

c.1687_1688fs

1 paper

NM_001145358.2

p.E540K

c.1618G>A

2 papers

NM_001145358.2

p.Q567*

c.1699C>T

1 paper

NM_001145358.2

p.K563_Q567delFs

c.1688_1700del13

1 paper

NM_001145358.2

p.G572fs

c.1714_1715fs