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

1–12 of 304 variants

7 papers

NM_001145358.2

p.A126V

c.377C>T

4 papers

NM_001145358.2

p.R1104*

c.3310C>T

3 papers

NM_001145358.2

p.Q339*

c.1015C>T

3 papers

NM_001145358.2

p.P411L

c.1232C>T

3 papers

NM_001145358.2

p.Y524_E526delFs

c.1570_1577del8

3 papers

NM_001145358.2

p.R553*

c.1657C>T

3 papers

NM_001145358.2

p.A780delFs

c.2339delG

3 papers

NM_001145358.2

p.P862L

c.2585C>T

3 papers

NM_001145358.2

p.R935*

c.2803C>T

3 papers

NM_001145358.2

p.K937delFs

c.2809_2810delTT

2 papers

NM_001145358.2

p.Q97H

c.291G>T

2 papers

NM_001145358.2

p.Q97H

c.291G>C