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

2 papers

NM_001145358.2

p.K155E

c.463A>G

Surrounding Variants

1 paper

NM_001145358.2

p.K155R

c.464A>G

2 papers

NM_001145358.2

p.Q157*

c.469C>T

1 paper

NM_001145358.2

p.N145S

c.434A>G

1 paper

NM_001145358.2

p.Y144delFs

c.431delT

1 paper

NM_001145358.2

p.Y144D

c.430T>G

1 paper

NM_001145358.2

p.Y144H

c.430T>C

1 paper

NM_001145358.2

p.A126_L127insFs

c.378_379dupGC

7 papers

NM_001145358.2

p.A126V

c.377C>T

1 paper

NM_001145358.2

p.A126T

c.376G>A

1 paper

NM_001145358.2

p.V123L

c.367G>T

1 paper

NM_001145358.2

p.V123M

c.367G>A

1 paper

NM_001145358.2

p.K122_V123Splc

c.367-1G>C