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

1 paper

NM_001145358.2

p.I1016T

c.3047T>C

Surrounding Variants

1 paper

NM_001145358.2

p.E1015_I1016insFs

c.3045_3046dupGA

1 paper

NM_001145358.2

p.I1016fs

c.3046_3047fs

2 papers

NM_001145358.2

p.H1010_S1013del4

c.3028_3038del12

1 paper

NM_001145358.2

p.Q1019*

c.3055C>T

1 paper

NM_001145358.2

p.V1012M

c.3034G>A

1 paper

NM_001145358.2

p.Q1009*

c.3025C>T

1 paper

NM_001145358.2

p.A1026S

c.3076G>T

1 paper

NM_001145358.2

p.Q1040fs

c.3118_3119fs

1 paper

NM_001145358.2

p.Q1040fs

c.3118_3119fs

1 paper

NM_001145358.2

p.Q1040delFs

c.3118_3119delTG

1 paper

NM_001145358.2

p.T1049M

c.3146C>T

1 paper

NM_001145358.2

p.K1053E

c.3157A>G