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.S390R

c.1170C>G

Surrounding Variants

1 paper

NM_001145358.2

p.S390R

c.1170C>A

1 paper

NM_001145358.2

p.S390R

c.1168A>C

1 paper

NM_001145358.2

p.A394S

c.1180G>T

1 paper

NM_001145358.2

p.D398_S399insFs

c.1194_1195insT

1 paper

NM_001145358.2

p.R401*

c.1201A>T

3 papers

NM_001145358.2

p.P411L

c.1232C>T

1 paper

NM_001145358.2

p.N415fs

c.1243_1244fs

1 paper

NM_001145358.2

p.N415_K416delFs

c.1245_1246delTG

1 paper

NM_001145358.2

p.Q422H

c.1266G>T

1 paper

NM_001145358.2

p.Q422H

c.1266G>C

1 paper

NM_001145358.2

p.G424D

c.1271G>A

1 paper

NM_001145358.2

p.G433E

c.1298G>A