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.P351S

c.1051C>T

Surrounding Variants

1 paper

NM_001145358.2

p.T350S

c.1049C>G

1 paper

NM_001145358.2

p.T350S

c.1048A>T

1 paper

NM_001145358.2

p.Y349F

c.1046A>T

1 paper

NM_001145358.2

p.Q361fs

c.1081_1082fs

1 paper

NM_001145358.2

p.V362fs

c.1084_1085fs

3 papers

NM_001145358.2

p.Q339*

c.1015C>T

2 papers

NM_001145358.2

p.K337_E338delFs

c.1010_1013del4

1 paper

NM_001145358.2

p.R364H

c.1091G>A

1 paper

NM_001145358.2

p.K337fs

c.1009_1010fs

2 papers

NM_001145358.2

p.K337fs

c.1009_1010fs

1 paper

NM_001145358.2

p.D371N

c.1111G>A

1 paper

NM_001145358.2

p.L372V

c.1114T>G