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

4 papers

NM_001145358.2

p.R1104*

c.3310C>T

Surrounding Variants

1 paper

NM_001145358.2

p.R1104Q

c.3311G>A

1 paper

NM_001145358.2

p.M1106T

c.3317T>C

1 paper

NM_001145358.2

p.Y1101*

c.3303C>G

1 paper

NM_001145358.2

p.Y1101*

c.3303C>A

1 paper

NM_001145358.2

p.D1100H

c.3298G>C

1 paper

NM_001145358.2

p.S1108*

c.3323C>G

1 paper

NM_001145358.2

p.S1108*

c.3323C>A

1 paper

NM_001145358.2

p.E1096_R1097Splc

c.3288+7G>A

1 paper

NM_001145358.2

p.F1068delFs

c.3204delA

2 papers

NM_001145358.2

p.D1060G

c.3179A>G

1 paper

NM_001145358.2

p.K1053E

c.3157A>G

1 paper

NM_001145358.2

p.T1049M

c.3146C>T